ALDOA (aldolase, fructose-bisphosphate A) - Rat Genome Database

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Gene: ALDOA (aldolase, fructose-bisphosphate A) Homo sapiens
Analyze
Symbol: ALDOA (Ensembl: AC093512.2)
Name: aldolase, fructose-bisphosphate A (Ensembl:uncharaterized LOC112694756)
RGD ID: 735815
Description: ENCODES a protein that exhibits protease binding (ortholog); INVOLVED IN canonical glycolysis (ortholog); positive regulation of cell migration (ortholog); PARTICIPATES IN Fanconi syndrome pathway; fructose and mannose metabolic pathway; fructose-1,6-bisphosphatase deficiency pathway; ASSOCIATED WITH Autism; autism spectrum disorder; Autistic behavior; FOUND IN cytoplasm (ortholog); cytosol (ortholog); plasma membrane (ortholog); INTERACTS WITH acrylamide (ortholog); bisphenol A (ortholog); furan (ortholog)
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ALDA; aldolase a; aldolase A, fructose-bisphosphate; epididymis secretory sperm binding protein Li 87p; fructose-1,6-bisphosphate triosephosphate-lyase; fructose-bisphosphate aldolase A; GSD12; HEL-S-87p; lung cancer antigen NY-LU-1; MGC10942; MGC17716; MGC17767; muscle-type aldolase; uncharacterized protein LOC112694756
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381630,053,151 - 30,070,414 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,064,164 - 30,072,207 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,053,090 - 30,070,420 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,064,164 - 30,070,457 (+)EnsemblGRCh38hg38GRCh38
GRCh371630,064,472 - 30,081,735 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,971,992 - 29,989,236 (+)NCBINCBI36Build 36hg18NCBI36
Build 341629,983,100 - 29,989,235NCBI
Celera1672,713,985 - 72,731,229 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,725,968 - 27,743,009 (+)NCBIHuRef
CHM1_11631,280,168 - 31,297,498 (+)NCBICHM1_1
T2T-CHM13v2.01630,335,801 - 30,353,059 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Autistic behavior  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Proteomic analysis of pancreatic ductal adenocarcinoma compared with normal adjacent pancreatic tissue and pancreatic benign cystadenoma. Cui Y, etal., Pancreatology. 2009;9(1-2):89-98. Epub 2008 Dec 12.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
4. Upregulation of aldolase B and overproduction of methylglyoxal in vascular tissues from rats with metabolic syndrome. Liu J, etal., Cardiovasc Res. 2011 Dec 1;92(3):494-503. doi: 10.1093/cvr/cvr239. Epub 2011 Sep 2.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans. Oppelt SA, etal., Mol Genet Metab. 2015 Mar;114(3):445-50. doi: 10.1016/j.ymgme.2015.01.001. Epub 2015 Jan 22.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Aldolase variants: structure and physiological significance. Rutter WJ, etal., Ann N Y Acad Sci. 1968 Jun 14;151(1):102-17.
14. LPS increases hepatic HIF-1alpha protein and expression of the HIF-1-dependent gene aldolase A in rats. Scharte M, etal., J Surg Res. 2006 Oct;135(2):262-7. Epub 2006 Aug 23.
15. Differential activation of some transcription factors during rat liver ischemia, reperfusion, and heat shock. Tacchini L, etal., J Cell Physiol. 1999 Aug;180(2):255-62.
Additional References at PubMed
PMID:12477932   PMID:16344560  


Genomics

Comparative Map Data
ALDOA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381630,053,151 - 30,070,414 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,064,164 - 30,072,207 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,053,090 - 30,070,420 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,064,164 - 30,070,457 (+)EnsemblGRCh38hg38GRCh38
GRCh371630,064,472 - 30,081,735 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,971,992 - 29,989,236 (+)NCBINCBI36Build 36hg18NCBI36
Build 341629,983,100 - 29,989,235NCBI
Celera1672,713,985 - 72,731,229 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,725,968 - 27,743,009 (+)NCBIHuRef
CHM1_11631,280,168 - 31,297,498 (+)NCBICHM1_1
T2T-CHM13v2.01630,335,801 - 30,353,059 (+)NCBIT2T-CHM13v2.0
Aldoa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397126,394,406 - 126,399,537 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7126,394,406 - 126,399,923 (-)EnsemblGRCm39 Ensembl
GRCm387126,795,234 - 126,800,994 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7126,795,234 - 126,800,751 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl7126,800,790 - 126,809,108 (-)EnsemblGRCm38mm10GRCm38
MGSCv377133,938,748 - 133,943,961 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367126,586,384 - 126,590,331 (-)NCBIMGSCv36mm8
Celera7126,642,610 - 126,647,822 (-)NCBICelera
Cytogenetic Map7F3NCBI
cM Map769.25NCBI
Aldoart2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8678,674,945 - 78,676,635 (+)NCBIGRCr8
mRatBN7.2672,939,821 - 72,941,511 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl672,939,788 - 72,941,709 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx673,361,318 - 73,363,008 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0673,667,686 - 73,669,376 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0673,095,184 - 73,096,873 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0676,349,362 - 76,351,052 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl676,349,362 - 76,351,051 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0685,883,180 - 85,884,870 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4675,812,016 - 75,813,706 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1675,815,141 - 75,816,831 (+)NCBI
Celera671,781,674 - 71,783,364 (+)NCBICelera
Cytogenetic Map6q23NCBI
Aldoa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554936,904,091 - 6,908,959 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554936,904,931 - 6,910,682 (-)NCBIChiLan1.0ChiLan1.0
LOC100995352
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21830,796,888 - 30,814,367 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11635,411,499 - 35,428,994 (-)NCBINHGRI_mPanPan1
PanPan1.11630,428,190 - 30,444,910 (+)NCBIpanpan1.1PanPan1.1panPan2
LOC102157295
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1618,069,839 - 18,077,265 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha619,648,461 - 19,655,895 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0618,205,816 - 18,213,233 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1618,004,777 - 18,012,193 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0617,920,174 - 17,927,597 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0618,234,326 - 18,243,209 (+)NCBIUU_Cfam_GSD_1.0
Aldoa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344124,320,230 - 124,326,099 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650112,418,090 - 12,422,689 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650112,418,090 - 12,423,959 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC103230584
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1526,588,932 - 26,606,722 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl526,588,868 - 26,592,112 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660682,932,348 - 2,947,575 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aldoa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478213,183,924 - 13,189,286 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ALDOA
258 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001243177.4(ALDOA):c.548A>G (p.Asp183Gly) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000019808] Chr16:30068824 [GRCh38]
Chr16:30080145 [GRCh37]
Chr16:16p11.2
pathogenic
NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000019809] Chr16:30069384 [GRCh38]
Chr16:30080705 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 copy number gain See cases [RCV000050652] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 copy number loss See cases [RCV000050653] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3 copy number gain See cases [RCV000050591] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1 copy number loss See cases [RCV000050595] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 copy number loss See cases [RCV000050431] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3 copy number gain See cases [RCV000050432] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x1 copy number loss See cases [RCV000050433] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29837647-30179388)x3 copy number gain Abnormal facial shape [RCV000051229]|See cases [RCV000051229] Chr16:29837647..30179388 [GRCh38]
Chr16:29848968..30190709 [GRCh37]
Chr16:29756469..30098210 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30321260)x3 copy number gain See cases [RCV000051168] Chr16:29227272..30321260 [GRCh38]
Chr16:29238593..30332581 [GRCh37]
Chr16:29146094..30240082 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1 copy number loss See cases [RCV000052520] Chr16:28456967..30295107 [GRCh38]
Chr16:28468288..30306428 [GRCh37]
Chr16:28375789..30213929 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000054252] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1 copy number loss See cases [RCV000054253] Chr16:28531783..30183432 [GRCh38]
Chr16:28543104..30194753 [GRCh37]
Chr16:28450605..30102254 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29441012-30183432)x3 copy number gain See cases [RCV000054255] Chr16:29441012..30183432 [GRCh38]
Chr16:29452333..30194753 [GRCh37]
Chr16:29359834..30102254 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3 copy number gain See cases [RCV000054346] Chr16:28366111..30183432 [GRCh38]
Chr16:28377432..30194753 [GRCh37]
Chr16:28284933..30102254 [NCBI36]
Chr16:16p12.1-11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29086504-30333716)x3 copy number gain See cases [RCV000054347] Chr16:29086504..30333716 [GRCh38]
Chr16:29097825..30345037 [GRCh37]
Chr16:29005326..30252538 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29170620-30179388)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054348]|See cases [RCV000054348] Chr16:29170620..30179388 [GRCh38]
Chr16:29181941..30190709 [GRCh37]
Chr16:29089442..30098210 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30183432)x1 copy number loss See cases [RCV000054256] Chr16:29441012..30183432 [GRCh38]
Chr16:29452333..30194753 [GRCh37]
Chr16:29359834..30102254 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29566441-30187279)x1 copy number loss See cases [RCV000054258] Chr16:29566441..30187279 [GRCh38]
Chr16:29577762..30198600 [GRCh37]
Chr16:29485263..30106101 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581262-30179388)x1 copy number loss See cases [RCV000054260] Chr16:29581262..30179388 [GRCh38]
Chr16:29592583..30190709 [GRCh37]
Chr16:29500084..30098210 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30162533)x1 copy number loss See cases [RCV000054264] Chr16:29581462..30162533 [GRCh38]
Chr16:29592783..30173854 [GRCh37]
Chr16:29500284..30081355 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30183432)x3 copy number gain See cases [RCV000054266] Chr16:29645363..30183432 [GRCh38]
Chr16:29656684..30194753 [GRCh37]
Chr16:29564185..30102254 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29645363-30183432)x1 copy number loss See cases [RCV000054267] Chr16:29645363..30183432 [GRCh38]
Chr16:29656684..30194753 [GRCh37]
Chr16:29564185..30102254 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3 copy number gain See cases [RCV000054364] Chr16:29170820..30179247 [GRCh38]
Chr16:29182141..30190568 [GRCh37]
Chr16:29089642..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227072-30179388)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054365]|Global developmental delay [RCV000054366]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054365]|See cases [RCV000054365] Chr16:29227072..30179388 [GRCh38]
Chr16:29238393..30190709 [GRCh37]
Chr16:29145894..30098210 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30323310)x3 copy number gain See cases [RCV000054367] Chr16:29441012..30323310 [GRCh38]
Chr16:29452333..30334631 [GRCh37]
Chr16:29359834..30242132 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29566440-30187279)x3 copy number gain See cases [RCV000054369] Chr16:29566440..30187279 [GRCh38]
Chr16:29577761..30198600 [GRCh37]
Chr16:29485262..30106101 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29653208-30162533)x3 copy number gain See cases [RCV000054288] Chr16:29653208..30162533 [GRCh38]
Chr16:29664529..30173854 [GRCh37]
Chr16:29572030..30081355 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29653208-30162533)x1 copy number loss See cases [RCV000054290] Chr16:29653208..30162533 [GRCh38]
Chr16:29664529..30173854 [GRCh37]
Chr16:29572030..30081355 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662433-30179388)x3 copy number gain Seizures [RCV000054291]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054292]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054292]|See cases [RCV000054291] Chr16:29662433..30179388 [GRCh38]
Chr16:29673754..30190709 [GRCh37]
Chr16:29581255..30098210 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662433-30179388)x1 copy number loss See cases [RCV000054293] Chr16:29662433..30179388 [GRCh38]
Chr16:29673754..30190709 [GRCh37]
Chr16:29581255..30098210 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29600893-30187279)x3 copy number gain See cases [RCV000054370] Chr16:29600893..30187279 [GRCh38]
Chr16:29612214..30198600 [GRCh37]
Chr16:29519715..30106101 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29645363-30323310)x3 copy number gain See cases [RCV000054371] Chr16:29645363..30323310 [GRCh38]
Chr16:29656684..30334631 [GRCh37]
Chr16:29564185..30242132 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3 copy number gain See cases [RCV000054372] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30179388)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054373]|See cases [RCV000054373] Chr16:29662633..30179388 [GRCh38]
Chr16:29673954..30190709 [GRCh37]
Chr16:29581455..30098210 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662635-30186020)x3 copy number gain See cases [RCV000054374] Chr16:29662635..30186020 [GRCh38]
Chr16:29673956..30197341 [GRCh37]
Chr16:29581457..30104842 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054299]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054299]|See cases [RCV000054299] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000054300] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x3 copy number gain See cases [RCV000054302] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x1 copy number loss See cases [RCV000054303] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662635-30108438)x1 copy number loss See cases [RCV000054305] Chr16:29662635..30108438 [GRCh38]
Chr16:29673956..30119759 [GRCh37]
Chr16:29581457..30027260 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29663527-30183432)x1 copy number loss See cases [RCV000054307] Chr16:29663527..30183432 [GRCh38]
Chr16:29674848..30194753 [GRCh37]
Chr16:29582349..30102254 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29808232-30162533)x1 copy number loss See cases [RCV000054309] Chr16:29808232..30162533 [GRCh38]
Chr16:29819553..30173854 [GRCh37]
Chr16:29727054..30081355 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29829840-30183432)x1 copy number loss See cases [RCV000054312] Chr16:29829840..30183432 [GRCh38]
Chr16:29841161..30194753 [GRCh37]
Chr16:29748662..30102254 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29844610-30187279)x1 copy number loss See cases [RCV000054314] Chr16:29844610..30187279 [GRCh38]
Chr16:29855931..30198600 [GRCh37]
Chr16:29763432..30106101 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3 copy number gain See cases [RCV000054299] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2
likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29645363-30185969)x1 copy number loss See cases [RCV000134450] Chr16:29645363..30185969 [GRCh38]
Chr16:29656684..30197290 [GRCh37]
Chr16:29564185..30104791 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179188)x1 copy number loss See cases [RCV000134452] Chr16:29662633..30179188 [GRCh38]
Chr16:29673954..30190509 [GRCh37]
Chr16:29581455..30098010 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29634999-30185969)x1 copy number loss See cases [RCV000134460] Chr16:29634999..30185969 [GRCh38]
Chr16:29646320..30197290 [GRCh37]
Chr16:29553821..30104791 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30179247)x1 copy number loss See cases [RCV000133991] Chr16:29466738..30179247 [GRCh38]
Chr16:29478059..30190568 [GRCh37]
Chr16:29385560..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 copy number gain See cases [RCV000135339] Chr16:29909613..31438697 [GRCh38]
Chr16:29920934..31450018 [GRCh37]
Chr16:29828435..31357519 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30179188)x3 copy number gain See cases [RCV000135284] Chr16:29609368..30179188 [GRCh38]
Chr16:29620689..30190509 [GRCh37]
Chr16:29528190..30098010 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3 copy number gain See cases [RCV000135765] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x1 copy number loss See cases [RCV000135768] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1 copy number loss See cases [RCV000135589] Chr16:29581462..30691912 [GRCh38]
Chr16:29592783..30703233 [GRCh37]
Chr16:29500284..30610734 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x3 copy number gain See cases [RCV000135445] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30186020)x1 copy number loss See cases [RCV000136137] Chr16:29662633..30186020 [GRCh38]
Chr16:29673954..30197341 [GRCh37]
Chr16:29581455..30104842 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662646-30321248)x3 copy number gain See cases [RCV000135976] Chr16:29662646..30321248 [GRCh38]
Chr16:29673967..30332569 [GRCh37]
Chr16:29581468..30240070 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3 copy number gain See cases [RCV000136065] Chr16:29318115..30179272 [GRCh38]
Chr16:29329436..30190593 [GRCh37]
Chr16:29236937..30098094 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30320693)x3 copy number gain See cases [RCV000137516] Chr16:29466738..30320693 [GRCh38]
Chr16:29478059..30332014 [GRCh37]
Chr16:29385560..30239515 [NCBI36]
Chr16:16p11.2
likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1 copy number loss See cases [RCV000137580] Chr16:28392832..30186020 [GRCh38]
Chr16:28404153..30197341 [GRCh37]
Chr16:28311654..30104842 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30321270)x3 copy number gain See cases [RCV000137446] Chr16:29645363..30321270 [GRCh38]
Chr16:29656684..30332591 [GRCh37]
Chr16:29564185..30240092 [NCBI36]
Chr16:16p11.2
likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29427948-30320693)x3 copy number gain See cases [RCV000137618] Chr16:29427948..30320693 [GRCh38]
Chr16:29439269..30332014 [GRCh37]
Chr16:29346770..30239515 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30179247)x1 copy number loss See cases [RCV000138036] Chr16:29579233..30179247 [GRCh38]
Chr16:29590554..30190568 [GRCh37]
Chr16:29498055..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30179247)x3 copy number gain See cases [RCV000138032] Chr16:29579233..30179247 [GRCh38]
Chr16:29590554..30190568 [GRCh37]
Chr16:29498055..30098069 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30186020)x3 copy number gain See cases [RCV000138440] Chr16:29466738..30186020 [GRCh38]
Chr16:29478059..30197341 [GRCh37]
Chr16:29385560..30104842 [NCBI36]
Chr16:16p11.2
likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29579233-30186020)x3 copy number gain See cases [RCV000138442] Chr16:29579233..30186020 [GRCh38]
Chr16:29590554..30197341 [GRCh37]
Chr16:29498055..30104842 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29579233-30186020)x1 copy number loss See cases [RCV000138443] Chr16:29579233..30186020 [GRCh38]
Chr16:29590554..30197341 [GRCh37]
Chr16:29498055..30104842 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29645363-30186020)x3 copy number gain See cases [RCV000138342] Chr16:29645363..30186020 [GRCh38]
Chr16:29656684..30197341 [GRCh37]
Chr16:29564185..30104842 [NCBI36]
Chr16:16p11.2
likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29645363-30186020)x1 copy number loss See cases [RCV000138343] Chr16:29645363..30186020 [GRCh38]
Chr16:29656684..30197341 [GRCh37]
Chr16:29564185..30104842 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3 copy number gain See cases [RCV000138501] Chr16:29318115..30321248 [GRCh38]
Chr16:29329436..30332569 [GRCh37]
Chr16:29236937..30240070 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581470-30179272)x1 copy number loss See cases [RCV000138508] Chr16:29581470..30179272 [GRCh38]
Chr16:29592791..30190593 [GRCh37]
Chr16:29500292..30098094 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30320693)x3 copy number gain See cases [RCV000139248] Chr16:29579233..30320693 [GRCh38]
Chr16:29590554..30332014 [GRCh37]
Chr16:29498055..30239515 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30320693)x1 copy number loss See cases [RCV000139249] Chr16:29579233..30320693 [GRCh38]
Chr16:29590554..30332014 [GRCh37]
Chr16:29498055..30239515 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic
GRCh38/hg38 16p11.2(chr16:29466739-30321248)x3 copy number gain See cases [RCV000139095] Chr16:29466739..30321248 [GRCh38]
Chr16:29478060..30332569 [GRCh37]
Chr16:29385561..30240070 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30320693)x3 copy number gain See cases [RCV000139032] Chr16:29609368..30320693 [GRCh38]
Chr16:29620689..30332014 [GRCh37]
Chr16:29528190..30239515 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30308986)x1 copy number loss See cases [RCV000140452] Chr16:29555974..30308986 [GRCh38]
Chr16:29567295..30320307 [GRCh37]
Chr16:29474796..30227808 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30185969)x3 copy number gain See cases [RCV000140510] Chr16:29581462..30185969 [GRCh38]
Chr16:29592783..30197290 [GRCh37]
Chr16:29500284..30104791 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1 copy number loss See cases [RCV000139916] Chr16:28392832..30320693 [GRCh38]
Chr16:28404153..30332014 [GRCh37]
Chr16:28311654..30239515 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29427948-30186020)x1 copy number loss See cases [RCV000141285] Chr16:29427948..30186020 [GRCh38]
Chr16:29439269..30197341 [GRCh37]
Chr16:29346770..30104842 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30185969)x1 copy number loss See cases [RCV000141120] Chr16:29609368..30185969 [GRCh38]
Chr16:29620689..30197290 [GRCh37]
Chr16:29528190..30104791 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30215609)x1 copy number loss See cases [RCV000140887] Chr16:29555974..30215609 [GRCh38]
Chr16:29567295..30226930 [GRCh37]
Chr16:29474796..30134431 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30166595)x1 copy number loss See cases [RCV000141992] Chr16:29568699..30166595 [GRCh38]
Chr16:29580020..30177916 [GRCh37]
Chr16:29487521..30085417 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29506377-30180527)x3 copy number gain See cases [RCV000141993] Chr16:29506377..30180527 [GRCh38]
Chr16:29517698..30191848 [GRCh37]
Chr16:29425199..30099349 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30295634)x3 copy number gain See cases [RCV000141947] Chr16:29568699..30295634 [GRCh38]
Chr16:29580020..30306955 [GRCh37]
Chr16:29487521..30214456 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30166678)x1 copy number loss See cases [RCV000141749] Chr16:29568699..30166678 [GRCh38]
Chr16:29580020..30177999 [GRCh37]
Chr16:29487521..30085500 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29569779-30228906)x3 copy number gain See cases [RCV000141682] Chr16:29569779..30228906 [GRCh38]
Chr16:29581100..30240227 [GRCh37]
Chr16:29488601..30147728 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x1 copy number loss See cases [RCV000141685] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29555975-30180527)x3 copy number gain See cases [RCV000142335] Chr16:29555975..30180527 [GRCh38]
Chr16:29567296..30191848 [GRCh37]
Chr16:29474797..30099349 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29662646-30179272)x1 copy number loss See cases [RCV000142500] Chr16:29662646..30179272 [GRCh38]
Chr16:29673967..30190593 [GRCh37]
Chr16:29581468..30098094 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29506377-30165919)x3 copy number gain See cases [RCV000142063] Chr16:29506377..30165919 [GRCh38]
Chr16:29517698..30177240 [GRCh37]
Chr16:29425199..30084741 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29513831-30206791)x1 copy number loss See cases [RCV000142087] Chr16:29513831..30206791 [GRCh38]
Chr16:29525152..30218112 [GRCh37]
Chr16:29432653..30125613 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:29555974-30178708)x1 copy number loss See cases [RCV000142045] Chr16:29555974..30178708 [GRCh38]
Chr16:29567295..30190029 [GRCh37]
Chr16:29474796..30097530 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29682770-30186020)x3 copy number gain See cases [RCV000142875] Chr16:29682770..30186020 [GRCh38]
Chr16:29694091..30197341 [GRCh37]
Chr16:29601592..30104842 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29581470-30321248)x3 copy number gain See cases [RCV000142929] Chr16:29581470..30321248 [GRCh38]
Chr16:29592791..30332569 [GRCh37]
Chr16:29500292..30240070 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166595)x1 copy number loss See cases [RCV000143363] Chr16:29555974..30166595 [GRCh38]
Chr16:29567295..30177916 [GRCh37]
Chr16:29474796..30085417 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29579757-30228906)x3 copy number gain See cases [RCV000143364] Chr16:29579757..30228906 [GRCh38]
Chr16:29591078..30240227 [GRCh37]
Chr16:29498579..30147728 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29892937-30433124)x3 copy number gain See cases [RCV000143385] Chr16:29892937..30433124 [GRCh38]
Chr16:29904258..30444445 [GRCh37]
Chr16:29811759..30351946 [NCBI36]
Chr16:16p11.2
pathogenic|likely benign
GRCh38/hg38 16p11.2(chr16:29568699-30228906)x3 copy number gain See cases [RCV000143431] Chr16:29568699..30228906 [GRCh38]
Chr16:29580020..30240227 [GRCh37]
Chr16:29487521..30147728 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x3 copy number gain See cases [RCV000143386] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:29474796..30228821 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29598613-30165919)x3 copy number gain See cases [RCV000143305] Chr16:29598613..30165919 [GRCh38]
Chr16:29609934..30177240 [GRCh37]
Chr16:29517435..30084741 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1 copy number loss See cases [RCV000143228] Chr16:29420891..30166595 [GRCh38]
Chr16:29432212..30177916 [GRCh37]
Chr16:29339713..30085417 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166486)x1 copy number loss See cases [RCV000143670] Chr16:29555974..30166486 [GRCh38]
Chr16:29567295..30177807 [GRCh37]
Chr16:29474796..30085308 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29627319-30165919)x3 copy number gain See cases [RCV000143581] Chr16:29627319..30165919 [GRCh38]
Chr16:29638640..30177240 [GRCh37]
Chr16:29546141..30084741 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166678)x1 copy number loss See cases [RCV000143478] Chr16:29555974..30166678 [GRCh38]
Chr16:29567295..30177999 [GRCh37]
Chr16:29474796..30085500 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30167085)x1 copy number loss See cases [RCV000143457] Chr16:29555974..30167085 [GRCh38]
Chr16:29567295..30178406 [GRCh37]
Chr16:29474796..30085907 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 copy number loss See cases [RCV000148288] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x1 copy number loss See cases [RCV000148134] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3 copy number gain See cases [RCV000148254]|See cases [RCV000509065] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000148148] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000148157] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3 copy number gain See cases [RCV000148119] Chr16:29170820..30179247 [GRCh38]
Chr16:29182141..30190568 [GRCh37]
Chr16:29089642..30098069 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3 copy number gain See cases [RCV000148123] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 copy number gain See cases [RCV000148125] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 copy number loss See cases [RCV000148095] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3 copy number gain See cases [RCV000148096] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1 copy number loss See cases [RCV000148097] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001343491]|not provided [RCV000755806] Chr16:30069610 [GRCh38]
Chr16:30080931 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.10:g.(?_29506378)_(30180574_?)del deletion Autism spectrum disorder [RCV000208742] Chr16:29506378..30180574 [GRCh38]
Chr16:29517699..30191895 [GRCh37]
Chr16:16p11.2
likely pathogenic
NC_000016.10:g.(?_29602174)_(30178709_?)dup duplication Autism spectrum disorder [RCV000208719] Chr16:29602174..30178709 [GRCh38]
Chr16:29613495..30190030 [GRCh37]
Chr16:16p11.2
likely pathogenic
NC_000016.10:g.(?_29685652)_(30180586_?)dup duplication Autism spectrum disorder [RCV000208725] Chr16:29685652..30180586 [GRCh38]
Chr16:29696973..30191907 [GRCh37]
Chr16:16p11.2
likely pathogenic
NC_000016.10:g.(?_29390980)_(30215610_?)dup duplication Autism spectrum disorder [RCV000208728] Chr16:29390980..30215610 [GRCh38]
Chr16:29402301..30226931 [GRCh37]
Chr16:16p11.2
likely pathogenic
NC_000016.10:g.(?_29506378)_(30180574_?)dup duplication Autism spectrum disorder [RCV000208737] Chr16:29506378..30180574 [GRCh38]
Chr16:29517699..30191895 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_001243177.4(ALDOA):c.1010A>T (p.Asn337Ile) single nucleotide variant not specified [RCV000239203] Chr16:30069878 [GRCh38]
Chr16:30081199 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.9:g.(?_30078199)_(30199917_?)dup duplication Severe combined immunodeficiency due to CORO1A deficiency [RCV000525191] Chr16:30066878..30188596 [GRCh38]
Chr16:30078199..30199917 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.787-20G>A single nucleotide variant HNSHA due to aldolase A deficiency [RCV002063890]|not specified [RCV000600107] Chr16:30069479 [GRCh38]
Chr16:30080800 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.*136C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV000266184] Chr16:30070348 [GRCh38]
Chr16:30081669 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000260709]|Inborn genetic diseases [RCV003343778] Chr16:30067315 [GRCh38]
Chr16:30078636 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000262270] Chr16:30067487 [GRCh38]
Chr16:30078808 [GRCh37]
Chr16:16p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000342067] Chr16:30068915 [GRCh38]
Chr16:30080236 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=) single nucleotide variant ALDOA-related disorder [RCV003940250]|HNSHA due to aldolase A deficiency [RCV000391170] Chr16:30069975 [GRCh38]
Chr16:30081296 [GRCh37]
Chr16:16p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000322102] Chr16:30067539 [GRCh38]
Chr16:30078860 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000369454] Chr16:30067311 [GRCh38]
Chr16:30078632 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.*76C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV000260385] Chr16:30070288 [GRCh38]
Chr16:30081609 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000347885] Chr16:30069936 [GRCh38]
Chr16:30081257 [GRCh37]
Chr16:16p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000349193]|not specified [RCV000429530] Chr16:30070002 [GRCh38]
Chr16:30081323 [GRCh37]
Chr16:16p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001243177.4(ALDOA):c.275-5C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV000375296] Chr16:30067445 [GRCh38]
Chr16:30078766 [GRCh37]
Chr16:16p11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000376674] Chr16:30067612 [GRCh38]
Chr16:30078933 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000402669]|not provided [RCV000675912]|not specified [RCV000417665] Chr16:30070155 [GRCh38]
Chr16:30081476 [GRCh37]
Chr16:16p11.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001243177.4(ALDOA):c.*101G>A single nucleotide variant HNSHA due to aldolase A deficiency [RCV000358618] Chr16:30070313 [GRCh38]
Chr16:30081634 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) single nucleotide variant ALDOA-related disorder [RCV003940251]|HNSHA due to aldolase A deficiency [RCV000314539]|not provided [RCV001311443] Chr16:30070156 [GRCh38]
Chr16:30081477 [GRCh37]
Chr16:16p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000315989]|not provided [RCV004696903] Chr16:30067318 [GRCh38]
Chr16:30078639 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000382695] Chr16:30068935 [GRCh38]
Chr16:30080256 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.*72T>G single nucleotide variant HNSHA due to aldolase A deficiency [RCV000352973] Chr16:30070284 [GRCh38]
Chr16:30081605 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.541+17del deletion HNSHA due to aldolase A deficiency [RCV000286922] Chr16:30068716 [GRCh38]
Chr16:30080038 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000288272]|not provided [RCV001509508] Chr16:30069622 [GRCh38]
Chr16:30080943 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.*96C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV000299238] Chr16:30070308 [GRCh38]
Chr16:30081629 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000313021] Chr16:30069988 [GRCh38]
Chr16:30081309 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.471T>A (p.Gly157=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002529759]|not provided [RCV001698012] Chr16:30067646 [GRCh38]
Chr16:30078967 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.274+4C>T single nucleotide variant ALDOA-related disorder [RCV003905561]|HNSHA due to aldolase A deficiency [RCV001083366]|not provided [RCV000598678] Chr16:30067370 [GRCh38]
Chr16:30078691 [GRCh37]
Chr16:16p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile) single nucleotide variant HNSHA due to aldolase A deficiency [RCV000696203]|not specified [RCV000523742] Chr16:30069634 [GRCh38]
Chr16:30080955 [GRCh37]
Chr16:16p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) single nucleotide variant ALDOA-related disorder [RCV003922759]|HNSHA due to aldolase A deficiency [RCV000635194]|not provided [RCV000675909] Chr16:30067586 [GRCh38]
Chr16:30078907 [GRCh37]
Chr16:16p11.2
benign|likely benign
NM_001243177.4(ALDOA):c.192G>A (p.Pro64=) single nucleotide variant not specified [RCV000434149] Chr16:30067284 [GRCh38]
Chr16:30078605 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001520582]|not provided [RCV001698338] Chr16:30068924 [GRCh38]
Chr16:30080245 [GRCh37]
Chr16:16p11.2
benign|likely benign
NM_001243177.4(ALDOA):c.961+17T>C single nucleotide variant HNSHA due to aldolase A deficiency [RCV002525463]|not specified [RCV000437993] Chr16:30069690 [GRCh38]
Chr16:30081011 [GRCh37]
Chr16:16p11.2
benign|likely benign
NM_001243177.4(ALDOA):c.542-16C>A single nucleotide variant HNSHA due to aldolase A deficiency [RCV001510971]|not specified [RCV000424197] Chr16:30068802 [GRCh38]
Chr16:30080123 [GRCh37]
Chr16:16p11.2
benign|likely benign
NM_001243177.4(ALDOA):c.1161+17G>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV000989592]|not provided [RCV000675911]|not specified [RCV000441717] Chr16:30070046 [GRCh38]
Chr16:30070046..30070047 [GRCh38]
Chr16:30081367 [GRCh37]
Chr16:30081367..30081368 [GRCh37]
Chr16:16p11.2
benign
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) single nucleotide variant ALDOA-related disorder [RCV003959892]|HNSHA due to aldolase A deficiency [RCV001002531]|not provided [RCV001720083] Chr16:30069841 [GRCh38]
Chr16:30081162 [GRCh37]
Chr16:16p11.2
benign|likely benign
NM_001243177.4(ALDOA):c.225C>T (p.His75=) single nucleotide variant not specified [RCV000438351] Chr16:30067317 [GRCh38]
Chr16:30078638 [GRCh37]
Chr16:16p11.2
likely benign
NC_000016.10:g.30053445C>T single nucleotide variant not provided [RCV001720036] Chr16:30053445 [GRCh38]
Chr16:30064766 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1002G>A (p.Ala334=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001490996]|not specified [RCV000428330] Chr16:30069870 [GRCh38]
Chr16:30081191 [GRCh37]
Chr16:16p11.2
likely benign
NM_184043.2(ALDOA):c.-22+11A>C single nucleotide variant not provided [RCV001721379] Chr16:30064516 [GRCh38]
Chr16:30075837 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.961+11C>T single nucleotide variant not specified [RCV000428602] Chr16:30069684 [GRCh38]
Chr16:30081005 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1032C>T (p.Cys344=) single nucleotide variant ALDOA-related disorder [RCV003899888]|not specified [RCV000432023] Chr16:30069900 [GRCh38]
Chr16:30081221 [GRCh37]
Chr16:16p11.2
likely benign
NC_000016.10:g.30054946G>A single nucleotide variant not specified [RCV000425269] Chr16:30054946 [GRCh38]
Chr16:30066267 [GRCh37]
Chr16:16p11.2
benign
NC_000016.10:g.30054945G>C single nucleotide variant not specified [RCV000425460] Chr16:30054945 [GRCh38]
Chr16:30066266 [GRCh37]
Chr16:16p11.2
likely benign
NM_184043.2(ALDOA):c.-88T>G single nucleotide variant not specified [RCV000435927] Chr16:30064439 [GRCh38]
Chr16:30075760 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1182A>G (p.Gln394=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001398803]|not specified [RCV000422229] Chr16:30070137 [GRCh38]
Chr16:30081458 [GRCh37]
Chr16:16p11.2
likely benign
NC_000016.10:g.30054780C>G single nucleotide variant not specified [RCV000443383] Chr16:30054780 [GRCh38]
Chr16:30066101 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.486+17C>G single nucleotide variant HNSHA due to aldolase A deficiency [RCV001001237]|not provided [RCV001720224] Chr16:30067678 [GRCh38]
Chr16:30078999 [GRCh37]
Chr16:16p11.2
benign|likely benign
NC_000016.10:g.30053469G>A single nucleotide variant not provided [RCV004703985]|not specified [RCV000432946] Chr16:30053469 [GRCh38]
Chr16:30064790 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.962-20G>A single nucleotide variant HNSHA due to aldolase A deficiency [RCV001861585]|not provided [RCV004703974]|not specified [RCV000433103] Chr16:30069810 [GRCh38]
Chr16:30081131 [GRCh37]
Chr16:16p11.2
likely benign
NC_000016.10:g.30053202C>T single nucleotide variant not specified [RCV000440582] Chr16:30053202 [GRCh38]
Chr16:30064523 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.487-9C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV002522479]|not specified [RCV000441237] Chr16:30068637 [GRCh38]
Chr16:30079958 [GRCh37]
Chr16:16p11.2
likely benign
NM_184043.2(ALDOA):c.-108C>T single nucleotide variant not specified [RCV000444720] Chr16:30064419 [GRCh38]
Chr16:30075740 [GRCh37]
Chr16:16p11.2
likely benign
NC_000016.10:g.(?_29646068)_(30181241_?)dup duplication Schizophrenia [RCV000416705] Chr16:29646068..30181241 [GRCh38]
Chr16:29657389..30192562 [GRCh37]
Chr16:29564890..30100063 [NCBI36]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(?_29620718)_(30181241_?)dup duplication Schizophrenia [RCV000416730] Chr16:29620718..30181241 [GRCh38]
Chr16:29632039..30192562 [GRCh37]
Chr16:29539540..30100063 [NCBI36]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(?_29634955)_(30181241_?)dup duplication Schizophrenia [RCV000416835] Chr16:29634955..30181241 [GRCh38]
Chr16:29646276..30192562 [GRCh37]
Chr16:29553777..30100063 [NCBI36]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(?_29634955)_(30181241_?)del deletion Schizophrenia [RCV000416902] Chr16:29634955..30181241 [GRCh38]
Chr16:29646276..30192562 [GRCh37]
Chr16:29553777..30100063 [NCBI36]
Chr16:16p11.2
likely pathogenic
NM_001243177.4(ALDOA):c.764G>A (p.Arg255His) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001865475]|not specified [RCV000482537] Chr16:30069367 [GRCh38]
Chr16:30080688 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1016A>G (p.Asn339Ser) single nucleotide variant Inborn genetic diseases [RCV003255709] Chr16:30069884 [GRCh38]
Chr16:30081205 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.787-15C>G single nucleotide variant not specified [RCV000605054] Chr16:30069484 [GRCh38]
Chr16:30080805 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.591T>C (p.Ala197=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003633528]|not specified [RCV000612427] Chr16:30068867 [GRCh38]
Chr16:30080188 [GRCh37]
Chr16:16p11.2
likely benign
NC_000016.10:g.(?_30066878)_(30188596_?)del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV000651712] Chr16:30066878..30188596 [GRCh38]
Chr16:30078199..30199917 [GRCh37]
Chr16:16p11.2
pathogenic
NM_001243177.4(ALDOA):c.498C>T (p.Gly166=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003633526]|not specified [RCV000615747] Chr16:30068657 [GRCh38]
Chr16:30079978 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.585C>T (p.Asp195=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002531669]|not provided [RCV004705712]|not specified [RCV000607883] Chr16:30068861 [GRCh38]
Chr16:30080182 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.961+12A>G single nucleotide variant HNSHA due to aldolase A deficiency [RCV002063123]|not specified [RCV000608175] Chr16:30069685 [GRCh38]
Chr16:30081006 [GRCh37]
Chr16:16p11.2
likely benign
NM_184043.2(ALDOA):c.-22+15dup duplication not specified [RCV000611700] Chr16:30064516..30064517 [GRCh38]
Chr16:30075837..30075838 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.597C>T (p.Phe199=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002529624]|not specified [RCV000611943] Chr16:30068873 [GRCh38]
Chr16:30080194 [GRCh37]
Chr16:16p11.2
likely benign
NC_000016.10:g.30054797C>T single nucleotide variant not specified [RCV000604097] Chr16:30054797 [GRCh38]
Chr16:30066118 [GRCh37]
Chr16:16p11.2
likely benign
NC_000016.10:g.30053492C>T single nucleotide variant not specified [RCV000604166] Chr16:30053492 [GRCh38]
Chr16:30064813 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003486368] Chr16:30070024 [GRCh38]
Chr16:30081345 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.996G>C (p.Glu332Asp) single nucleotide variant ALDOA-related disorder [RCV003953229]|HNSHA due to aldolase A deficiency [RCV002532171]|not provided [RCV000675910] Chr16:30069864 [GRCh38]
Chr16:30081185 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NC_000016.9:g.(?_30066083)_(30081533_?)dup duplication HNSHA due to aldolase A deficiency [RCV000708105] Chr16:30054762..30070212 [GRCh38]
Chr16:30066083..30081533 [GRCh37]
Chr16:16p11.2
uncertain significance
Single allele duplication Schizophrenia [RCV000754184] Chr16:29480853..30254620 [GRCh38]
Chr16:16p11.2
pathogenic
Single allele duplication Schizophrenia [RCV000754186] Chr16:29614026..30184960 [GRCh38]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(?_29627836)_(30184960_?)del deletion Schizophrenia [RCV000754187] Chr16:29627836..30184960 [GRCh38]
Chr16:16p11.2
pathogenic
Single allele duplication Schizophrenia [RCV000754188] Chr16:29627836..30184960 [GRCh38]
Chr16:16p11.2
pathogenic
Single allele duplication Autism [RCV000754182] Chr16:29401125..30312960 [GRCh38]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(?_29480853)_(30254620_?)del deletion Autism [RCV000754183] Chr16:29480853..30254620 [GRCh38]
Chr16:16p11.2
pathogenic
Single allele duplication Autism [RCV000754185] Chr16:29553914..30184960 [GRCh38]
Chr16:16p11.2
pathogenic
Single allele duplication Autism [RCV000754189] Chr16:29640511..30184960 [GRCh38]
Chr16:16p11.2
pathogenic
16p11.2 recurrent region (BP4-BP5) deletion Proximal 16p11.2 microdeletion syndrome [RCV000034307] Chr16:29638676..30188531 [GRCh38]
Chr16:29649997..30199852 [GRCh37]
Chr16:16p11.2
pathogenic
NM_001243177.4(ALDOA):c.787-40C>T single nucleotide variant not provided [RCV001609953] Chr16:30069459 [GRCh38]
Chr16:30080780 [GRCh37]
Chr16:16p11.2
benign
NC_000016.10:g.(?_30066878)_(30188984_?)del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV000815913] Chr16:30066878..30188984 [GRCh38]
Chr16:30078199..30200305 [GRCh37]
Chr16:16p11.2
pathogenic
NC_000016.9:g.(?_30078199)_(30200305_?)dup duplication Severe combined immunodeficiency due to CORO1A deficiency [RCV000808632] Chr16:30066878..30188984 [GRCh38]
Chr16:30078199..30200305 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.227G>A (p.Arg76His) single nucleotide variant Inborn genetic diseases [RCV003271004] Chr16:30067319 [GRCh38]
Chr16:30078640 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.987G>C (p.Gln329His) single nucleotide variant not provided [RCV000996253] Chr16:30069855 [GRCh38]
Chr16:30081176 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1064_1066del (p.Ser355del) deletion not provided [RCV000996254] Chr16:30069930..30069932 [GRCh38]
Chr16:30081251..30081253 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.787-51C>A single nucleotide variant not provided [RCV001564245] Chr16:30069448 [GRCh38]
Chr16:30080769 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.274+29G>A single nucleotide variant not provided [RCV001589449] Chr16:30067395 [GRCh38]
Chr16:30078716 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.141+88G>A single nucleotide variant not provided [RCV001577685] Chr16:30067126 [GRCh38]
Chr16:30078447 [GRCh37]
Chr16:16p11.2
likely benign
NC_000016.10:g.30055012_30055013del deletion not provided [RCV001620813] Chr16:30055012..30055013 [GRCh38]
Chr16:30066333..30066334 [GRCh37]
Chr16:16p11.2
benign
NM_001243177.4(ALDOA):c.487-115A>T single nucleotide variant not provided [RCV001719690] Chr16:30068531 [GRCh38]
Chr16:30079852 [GRCh37]
Chr16:16p11.2
benign
NM_001243177.4(ALDOA):c.961+55C>T single nucleotide variant not provided [RCV001569285] Chr16:30069728 [GRCh38]
Chr16:30081049 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.487-243T>C single nucleotide variant not provided [RCV001672384] Chr16:30068403 [GRCh38]
Chr16:30079724 [GRCh37]
Chr16:16p11.2
benign
NM_001243177.4(ALDOA):c.487-143_487-138del deletion not provided [RCV001710055] Chr16:30068498..30068503 [GRCh38]
Chr16:30079819..30079824 [GRCh37]
Chr16:16p11.2
benign
NM_001243177.4(ALDOA):c.202A>G (p.Lys68Glu) single nucleotide variant not provided [RCV003480173] Chr16:30067294 [GRCh38]
Chr16:30078615 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.472G>A (p.Val158Ile) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001294958] Chr16:30067647 [GRCh38]
Chr16:30078968 [GRCh37]
Chr16:16p11.2
uncertain significance
Single allele deletion Chromosome 16p11.2 duplication syndrome [RCV002280356] Chr16:29663598..30188229 [GRCh38]
Chr16:16p11.2
pathogenic
NM_001243177.4(ALDOA):c.290G>A (p.Arg97Gln) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001313313]|Inborn genetic diseases [RCV003246869] Chr16:30067465 [GRCh38]
Chr16:30078786 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.375C>G (p.Asn125Lys) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001322822] Chr16:30067550 [GRCh38]
Chr16:30078871 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001351952] Chr16:30067650 [GRCh38]
Chr16:30078971 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.702+3G>A single nucleotide variant HNSHA due to aldolase A deficiency [RCV001309702] Chr16:30068981 [GRCh38]
Chr16:30080302 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001338934] Chr16:30067266 [GRCh38]
Chr16:30078587 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.644C>T (p.Ala215Val) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001307133] Chr16:30068920 [GRCh38]
Chr16:30080241 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.274+5G>A single nucleotide variant HNSHA due to aldolase A deficiency [RCV001347823] Chr16:30067371 [GRCh38]
Chr16:30078692 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.563G>A (p.Arg188His) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001314439] Chr16:30068839 [GRCh38]
Chr16:30080160 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.609T>C (p.Arg203=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001394135] Chr16:30068885 [GRCh38]
Chr16:30080206 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1162-4T>C single nucleotide variant not provided [RCV001509510] Chr16:30070113 [GRCh38]
Chr16:30081434 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002564297]|not provided [RCV001509509] Chr16:30069997 [GRCh38]
Chr16:30081318 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1233C>T (p.Leu411=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001487664]|not provided [RCV002511088] Chr16:30070188 [GRCh38]
Chr16:30081509 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_001243177.4(ALDOA):c.921C>T (p.Thr307=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001501414] Chr16:30069633 [GRCh38]
Chr16:30080954 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.541+42G>A single nucleotide variant not provided [RCV001714490] Chr16:30068742 [GRCh38]
Chr16:30080063 [GRCh37]
Chr16:16p11.2
benign
NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001865968]|not provided [RCV001509507] Chr16:30068955 [GRCh38]
Chr16:30080276 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.142-63G>C single nucleotide variant HNSHA due to aldolase A deficiency [RCV001518205]|not provided [RCV001692416] Chr16:30067171 [GRCh38]
Chr16:30067171..30067172 [GRCh38]
Chr16:30078492 [GRCh37]
Chr16:30078492..30078493 [GRCh37]
Chr16:16p11.2
benign
NM_001243177.4(ALDOA):c.935G>A (p.Arg312His) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003108968] Chr16:30069647 [GRCh38]
Chr16:30080968 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001730028] Chr16:30069869 [GRCh38]
Chr16:30081190 [GRCh37]
Chr16:16p11.2
pathogenic|likely pathogenic
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002227356]|not provided [RCV004793745] Chr16:30067497 [GRCh38]
Chr16:30078818 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001730019] Chr16:30070133 [GRCh38]
Chr16:30081454 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_001243177.4(ALDOA):c.99C>G (p.His33Gln) single nucleotide variant See cases [RCV002253071] Chr16:30066996 [GRCh38]
Chr16:30078317 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.309C>T (p.Thr103=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002544304]|not provided [RCV001786940] Chr16:30067484 [GRCh38]
Chr16:30078805 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.962-63C>T single nucleotide variant not provided [RCV001779848] Chr16:30069767 [GRCh38]
Chr16:30081088 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002538740]|not provided [RCV001756396] Chr16:30069641 [GRCh38]
Chr16:30080962 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001802476] Chr16:30068960 [GRCh38]
Chr16:30080281 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.698A>T (p.Gln233Leu) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001964927] Chr16:30068974 [GRCh38]
Chr16:30080295 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.821A>G (p.His274Arg) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001941233] Chr16:30069533 [GRCh38]
Chr16:30080854 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.217A>G (p.Ile73Val) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001961118] Chr16:30067309 [GRCh38]
Chr16:30078630 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.436C>T (p.Arg146Cys) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001944363] Chr16:30067611 [GRCh38]
Chr16:30078932 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.520A>G (p.Asn174Asp) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001915670] Chr16:30068679 [GRCh38]
Chr16:30080000 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.400T>C (p.Phe134Leu) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001881306] Chr16:30067575 [GRCh38]
Chr16:30078896 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.273T>G (p.Thr91=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001882940] Chr16:30067365 [GRCh38]
Chr16:30078686 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001935594]|Inborn genetic diseases [RCV004631824] Chr16:30069649 [GRCh38]
Chr16:30080970 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.572A>T (p.Gln191Leu) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001899902] Chr16:30068848 [GRCh38]
Chr16:30080169 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.720C>T (p.Ile240=) single nucleotide variant ALDOA-related disorder [RCV003976251]|HNSHA due to aldolase A deficiency [RCV001922836] Chr16:30069323 [GRCh38]
Chr16:30080644 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1069G>A (p.Gly357Ser) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002016412] Chr16:30069937 [GRCh38]
Chr16:30081258 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.926C>T (p.Thr309Ile) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002049714]|not provided [RCV003481256] Chr16:30069638 [GRCh38]
Chr16:30080959 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1208C>G (p.Ala403Gly) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002027391] Chr16:30070163 [GRCh38]
Chr16:30081484 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.382A>C (p.Ile128Leu) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001957119] Chr16:30067557 [GRCh38]
Chr16:30078878 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.807G>T (p.Lys269Asn) single nucleotide variant HNSHA due to aldolase A deficiency [RCV001959332] Chr16:30069519 [GRCh38]
Chr16:30080840 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.945G>C (p.Val315=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002205040] Chr16:30069657 [GRCh38]
Chr16:30080978 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.426G>A (p.Ala142=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002075776] Chr16:30067601 [GRCh38]
Chr16:30078922 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser) single nucleotide variant ALDOA-related disorder [RCV003968843]|HNSHA due to aldolase A deficiency [RCV002080958] Chr16:30068944 [GRCh38]
Chr16:30080265 [GRCh37]
Chr16:16p11.2
likely benign|conflicting interpretations of pathogenicity
NC_000016.10:g.29640592_30187862del deletion Proximal 16p11.2 microdeletion syndrome [RCV003313807] Chr16:29640592..30187862 [GRCh38]
Chr16:16p11.2
pathogenic|likely pathogenic
NM_001243177.4(ALDOA):c.1161+8T>C single nucleotide variant HNSHA due to aldolase A deficiency [RCV002200364] Chr16:30070037 [GRCh38]
Chr16:30081358 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003121254] Chr16:30070026 [GRCh38]
Chr16:30081347 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003120181] Chr16:30069637 [GRCh38]
Chr16:30080958 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003120203]|not provided [RCV003334082] Chr16:30069834 [GRCh38]
Chr16:30081155 [GRCh37]
Chr16:16p11.2
likely benign
NC_000016.10:g.(29449194_29595531)_(30188533_30335547)del deletion See cases [RCV002227010] Chr16:29595531..30188533 [GRCh38]
Chr16:16p11.2
likely pathogenic|low penetrance
NM_001243177.4(ALDOA):c.703-24_703-21dup duplication not provided [RCV002261529] Chr16:30069280..30069281 [GRCh38]
Chr16:30080601..30080602 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1073G>A (p.Arg358Gln) single nucleotide variant not provided [RCV002269491] Chr16:30069941 [GRCh38]
Chr16:30081262 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.542-3T>C single nucleotide variant HNSHA due to aldolase A deficiency [RCV002750592] Chr16:30068815 [GRCh38]
Chr16:30080136 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.368G>A (p.Arg123His) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003095677] Chr16:30067543 [GRCh38]
Chr16:30078864 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.721G>A (p.Val241Met) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002993740] Chr16:30069324 [GRCh38]
Chr16:30080645 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1186A>G (p.Lys396Glu) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002991399] Chr16:30070141 [GRCh38]
Chr16:30081462 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1250C>T (p.Ala417Val) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002972232] Chr16:30070205 [GRCh38]
Chr16:30081526 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.900T>C (p.His300=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002842093] Chr16:30069612 [GRCh38]
Chr16:30080933 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.787-17C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV003076699] Chr16:30069482 [GRCh38]
Chr16:30080803 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1033C>A (p.Pro345Thr) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002686021] Chr16:30069901 [GRCh38]
Chr16:30081222 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.590C>A (p.Ala197Asp) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002837931] Chr16:30068866 [GRCh38]
Chr16:30080187 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.951del (p.Ala318fs) deletion HNSHA due to aldolase A deficiency [RCV002972689] Chr16:30069658 [GRCh38]
Chr16:30080979 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1198A>G (p.Ser400Gly) single nucleotide variant Inborn genetic diseases [RCV002865485] Chr16:30070153 [GRCh38]
Chr16:30081474 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1162-18A>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV002848400] Chr16:30070099 [GRCh38]
Chr16:30081420 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1236C>T (p.Phe412=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002979655] Chr16:30070191 [GRCh38]
Chr16:30081512 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002622865] Chr16:30067600 [GRCh38]
Chr16:30078921 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002623269] Chr16:30068664 [GRCh38]
Chr16:30079985 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.525C>T (p.Gly175=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002914516] Chr16:30068684 [GRCh38]
Chr16:30080005 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_001243177.4(ALDOA):c.469G>A (p.Gly157Ser) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003077668] Chr16:30067644 [GRCh38]
Chr16:30078965 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.499G>A (p.Val167Met) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003081567] Chr16:30068658 [GRCh38]
Chr16:30079979 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.733A>G (p.Ile245Val) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002740409] Chr16:30069336 [GRCh38]
Chr16:30080657 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.951C>A (p.Pro317=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002638992] Chr16:30069663 [GRCh38]
Chr16:30080984 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003100591] Chr16:30068838 [GRCh38]
Chr16:30080159 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.466G>T (p.Gly156Cys) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002820456] Chr16:30067641 [GRCh38]
Chr16:30078962 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.552G>C (p.Gly184=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002848264] Chr16:30068828 [GRCh38]
Chr16:30080149 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003019147] Chr16:30068683 [GRCh38]
Chr16:30080004 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.787-12G>C single nucleotide variant HNSHA due to aldolase A deficiency [RCV003100544] Chr16:30069487 [GRCh38]
Chr16:30080808 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1162-17C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV002638655] Chr16:30070100 [GRCh38]
Chr16:30081421 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.330_331delinsCT (p.Arg111Cys) indel HNSHA due to aldolase A deficiency [RCV002735180] Chr16:30067505..30067506 [GRCh38]
Chr16:30078826..30078827 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1008C>T (p.Ile336=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003002158] Chr16:30069876 [GRCh38]
Chr16:30081197 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.861G>A (p.Met287Ile) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002979348] Chr16:30069573 [GRCh38]
Chr16:30080894 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002998809] Chr16:30069511 [GRCh38]
Chr16:30080832 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1124T>C (p.Leu375Pro) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003038258] Chr16:30069992 [GRCh38]
Chr16:30081313 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.289C>T (p.Arg97Trp) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002958906] Chr16:30067464 [GRCh38]
Chr16:30078785 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.462C>T (p.Ser154=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002805363] Chr16:30067637 [GRCh38]
Chr16:30078958 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.613G>T (p.Val205Leu) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003081842] Chr16:30068889 [GRCh38]
Chr16:30080210 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.181G>A (p.Ala61Thr) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002985609] Chr16:30067273 [GRCh38]
Chr16:30078594 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.896C>T (p.Ser299Phe) single nucleotide variant Inborn genetic diseases [RCV002930425] Chr16:30069608 [GRCh38]
Chr16:30080929 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.828C>T (p.Ile276=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003056710] Chr16:30069540 [GRCh38]
Chr16:30080861 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.962-2dup duplication HNSHA due to aldolase A deficiency [RCV002957640] Chr16:30069827..30069828 [GRCh38]
Chr16:30081148..30081149 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.299C>T (p.Ser100Phe) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002801749] Chr16:30067474 [GRCh38]
Chr16:30078795 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.884C>T (p.Thr295Ile) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002710519] Chr16:30069596 [GRCh38]
Chr16:30080917 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.239C>T (p.Pro80Leu) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002626398] Chr16:30067331 [GRCh38]
Chr16:30078652 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.486+10G>A single nucleotide variant HNSHA due to aldolase A deficiency [RCV002985616] Chr16:30067671 [GRCh38]
Chr16:30078992 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.630A>G (p.Glu210=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002644472] Chr16:30068906 [GRCh38]
Chr16:30080227 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.962-8C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV003082628] Chr16:30069822 [GRCh38]
Chr16:30081143 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1251C>T (p.Ala417=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003058279] Chr16:30070206 [GRCh38]
Chr16:30081527 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.703-10C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV002581832] Chr16:30069296 [GRCh38]
Chr16:30080617 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.797C>T (p.Ala266Val) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003092013] Chr16:30069509 [GRCh38]
Chr16:30080830 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.876T>G (p.His292Gln) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003092130] Chr16:30069588 [GRCh38]
Chr16:30080909 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1154G>A (p.Arg385Gln) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003092174] Chr16:30070022 [GRCh38]
Chr16:30081343 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.486+17C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV002598682] Chr16:30067678 [GRCh38]
Chr16:30078999 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.636C>T (p.Thr212=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002720782] Chr16:30068912 [GRCh38]
Chr16:30080233 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.486+16C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV002714841] Chr16:30067677 [GRCh38]
Chr16:30078998 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002628109] Chr16:30070009 [GRCh38]
Chr16:30081330 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.962-7T>G single nucleotide variant HNSHA due to aldolase A deficiency [RCV002770474] Chr16:30069823 [GRCh38]
Chr16:30081144 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.318C>T (p.Thr106=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002599630] Chr16:30067493 [GRCh38]
Chr16:30078814 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.780C>T (p.Thr260=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002599189] Chr16:30069383 [GRCh38]
Chr16:30080704 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.702+8T>C single nucleotide variant HNSHA due to aldolase A deficiency [RCV002576918] Chr16:30068986 [GRCh38]
Chr16:30080307 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.275-9C>G single nucleotide variant ALDOA-related disorder [RCV004747208]|HNSHA due to aldolase A deficiency [RCV002579065] Chr16:30067441 [GRCh38]
Chr16:30078762 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.867C>T (p.Thr289=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002627600] Chr16:30069579 [GRCh38]
Chr16:30080900 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del) deletion HNSHA due to aldolase A deficiency [RCV002963379] Chr16:30067531..30067533 [GRCh38]
Chr16:30078852..30078854 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1033C>T (p.Pro345Ser) single nucleotide variant Inborn genetic diseases [RCV002831938] Chr16:30069901 [GRCh38]
Chr16:30081222 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.275-3del deletion HNSHA due to aldolase A deficiency [RCV002646557] Chr16:30067445 [GRCh38]
Chr16:30078766 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.515G>A (p.Gly172Glu) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002962566] Chr16:30068674 [GRCh38]
Chr16:30079995 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.703-7C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV003048119] Chr16:30069299 [GRCh38]
Chr16:30080620 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.302T>C (p.Ile101Thr) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003027329] Chr16:30067477 [GRCh38]
Chr16:30078798 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.290G>C (p.Arg97Pro) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002670784] Chr16:30067465 [GRCh38]
Chr16:30078786 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.961+15C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV002580304] Chr16:30069688 [GRCh38]
Chr16:30081009 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.703-9G>A single nucleotide variant HNSHA due to aldolase A deficiency [RCV002651076] Chr16:30069297 [GRCh38]
Chr16:30080618 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.729T>C (p.Pro243=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003027216] Chr16:30069332 [GRCh38]
Chr16:30080653 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.288G>A (p.Lys96=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002680766] Chr16:30067463 [GRCh38]
Chr16:30078784 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.803A>G (p.Tyr268Cys) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003067244] Chr16:30069515 [GRCh38]
Chr16:30080836 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.220G>A (p.Ala74Thr) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003069901] Chr16:30067312 [GRCh38]
Chr16:30078633 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002633792] Chr16:30069948 [GRCh38]
Chr16:30081269 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002633392] Chr16:30069897 [GRCh38]
Chr16:30081218 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.934C>T (p.Arg312Cys) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003066610] Chr16:30069646 [GRCh38]
Chr16:30080967 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.189C>T (p.Thr63=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002942776] Chr16:30067281 [GRCh38]
Chr16:30078602 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.918G>A (p.Ala306=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003066227] Chr16:30069630 [GRCh38]
Chr16:30080951 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.316A>G (p.Thr106Ala) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003067564] Chr16:30067491 [GRCh38]
Chr16:30078812 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1162-14C>A single nucleotide variant HNSHA due to aldolase A deficiency [RCV003067632] Chr16:30070103 [GRCh38]
Chr16:30081424 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1162-16C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV003070377] Chr16:30070101 [GRCh38]
Chr16:30081422 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.804C>T (p.Tyr268=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002635604] Chr16:30069516 [GRCh38]
Chr16:30080837 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.582G>A (p.Lys194=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002606056] Chr16:30068858 [GRCh38]
Chr16:30080179 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1162-11T>C single nucleotide variant HNSHA due to aldolase A deficiency [RCV002584121] Chr16:30070106 [GRCh38]
Chr16:30081427 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.184C>T (p.Leu62=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002585551] Chr16:30067276 [GRCh38]
Chr16:30078597 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.649G>A (p.Ala217Thr) single nucleotide variant HNSHA due to aldolase A deficiency [RCV002610548] Chr16:30068925 [GRCh38]
Chr16:30080246 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.702+17T>C single nucleotide variant HNSHA due to aldolase A deficiency [RCV002612637] Chr16:30068995 [GRCh38]
Chr16:30080316 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1196C>T (p.Pro399Leu) single nucleotide variant Inborn genetic diseases [RCV003263618] Chr16:30070151 [GRCh38]
Chr16:30081472 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1227G>T (p.Glu409Asp) single nucleotide variant Inborn genetic diseases [RCV003301524] Chr16:30070182 [GRCh38]
Chr16:30081503 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003141314] Chr16:30070019 [GRCh38]
Chr16:30081340 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.680G>A (p.Arg227His) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003141315] Chr16:30068956 [GRCh38]
Chr16:30080277 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003141316] Chr16:30069982 [GRCh38]
Chr16:30081303 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003141317] Chr16:30069953 [GRCh38]
Chr16:30081274 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003141318] Chr16:30069878 [GRCh38]
Chr16:30081199 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.310G>A (p.Glu104Lys) single nucleotide variant Inborn genetic diseases [RCV003202484] Chr16:30067485 [GRCh38]
Chr16:30078806 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:29653297-30181026) copy number loss See cases [RCV003223561] Chr16:29653297..30181026 [GRCh38]
Chr16:16p11.2
pathogenic
NM_001243177.4(ALDOA):c.878C>G (p.Ala293Gly) single nucleotide variant Inborn genetic diseases [RCV003362107] Chr16:30069590 [GRCh38]
Chr16:30080911 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1111AAG[1] (p.Lys372del) microsatellite not provided [RCV003480175] Chr16:30069978..30069980 [GRCh38]
Chr16:30081299..30081301 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.64T>C (p.Phe22Leu) single nucleotide variant ALDOA-related disorder [RCV003399521] Chr16:30066961 [GRCh38]
Chr16:30078282 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.648C>T (p.Leu216=) single nucleotide variant not provided [RCV003429124] Chr16:30068924 [GRCh38]
Chr16:30080245 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.576C>T (p.Tyr192=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003849353] Chr16:30068852 [GRCh38]
Chr16:30080173 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.486+9A>C single nucleotide variant HNSHA due to aldolase A deficiency [RCV003518631] Chr16:30067670 [GRCh38]
Chr16:30078991 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003486365] Chr16:30070126 [GRCh38]
Chr16:30081447 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.703-12C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV003517815] Chr16:30069294 [GRCh38]
Chr16:30080615 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.702+7C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV003880492] Chr16:30068985 [GRCh38]
Chr16:30080306 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1047C>T (p.Pro349=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003517919] Chr16:30069915 [GRCh38]
Chr16:30081236 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.487-14C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV003880692] Chr16:30068632 [GRCh38]
Chr16:30079953 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.275-11G>C single nucleotide variant HNSHA due to aldolase A deficiency [RCV003516742] Chr16:30067439 [GRCh38]
Chr16:30078760 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.364G>A (p.Asp122Asn) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003518138] Chr16:30067539 [GRCh38]
Chr16:30078860 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1162-14C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV003825739] Chr16:30070103 [GRCh38]
Chr16:30081424 [GRCh37]
Chr16:16p11.2
likely benign
GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV003883244] Chr16:29329272..30178707 [GRCh38]
Chr16:16p11.2
pathogenic
NM_001243177.4(ALDOA):c.702+12G>A single nucleotide variant HNSHA due to aldolase A deficiency [RCV003517889] Chr16:30068990 [GRCh38]
Chr16:30080311 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003486366] Chr16:30067498 [GRCh38]
Chr16:30078819 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1160del (p.Leu387fs) deletion HNSHA due to aldolase A deficiency [RCV003486367] Chr16:30070028 [GRCh38]
Chr16:30081349 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.486+18G>A single nucleotide variant HNSHA due to aldolase A deficiency [RCV003634141] Chr16:30067679 [GRCh38]
Chr16:30079000 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.408G>A (p.Glu136=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003634478] Chr16:30067583 [GRCh38]
Chr16:30078904 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.275-15A>G single nucleotide variant HNSHA due to aldolase A deficiency [RCV003633176] Chr16:30067435 [GRCh38]
Chr16:30078756 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs) deletion HNSHA due to aldolase A deficiency [RCV003634528] Chr16:30067518..30067530 [GRCh38]
Chr16:30078839..30078851 [GRCh37]
Chr16:16p11.2
pathogenic
NM_001243177.4(ALDOA):c.786+11A>G single nucleotide variant HNSHA due to aldolase A deficiency [RCV003633138] Chr16:30069400 [GRCh38]
Chr16:30080721 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.588A>C (p.Gly196=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003633326] Chr16:30068864 [GRCh38]
Chr16:30080185 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.702+20A>G single nucleotide variant HNSHA due to aldolase A deficiency [RCV003633367] Chr16:30068998 [GRCh38]
Chr16:30080319 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1224C>T (p.Ser408=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003633081] Chr16:30070179 [GRCh38]
Chr16:30081500 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1161+9A>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV003634371] Chr16:30070038 [GRCh38]
Chr16:30081359 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.922G>C (p.Val308Leu) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003634415] Chr16:30069634 [GRCh38]
Chr16:30080955 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.396C>T (p.Ile132=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003633988] Chr16:30067571 [GRCh38]
Chr16:30078892 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1248C>T (p.His416=) single nucleotide variant ALDOA-related disorder [RCV003956545]|HNSHA due to aldolase A deficiency [RCV003634262] Chr16:30070203 [GRCh38]
Chr16:30081524 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.786+2T>C single nucleotide variant HNSHA due to aldolase A deficiency [RCV003816497] Chr16:30069391 [GRCh38]
Chr16:30080712 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_001243177.4(ALDOA):c.487-19G>A single nucleotide variant HNSHA due to aldolase A deficiency [RCV003634215] Chr16:30068627 [GRCh38]
Chr16:30079948 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.447C>T (p.Pro149=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003633804] Chr16:30067622 [GRCh38]
Chr16:30078943 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.963G>C (p.Gly321=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003633208] Chr16:30069831 [GRCh38]
Chr16:30081152 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003634488] Chr16:30070124 [GRCh38]
Chr16:30081445 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.317C>T (p.Thr106Ile) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003633888] Chr16:30067492 [GRCh38]
Chr16:30078813 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1080G>A (p.Leu360=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003811941] Chr16:30069948 [GRCh38]
Chr16:30081269 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.1161+9_1161+19dup duplication HNSHA due to aldolase A deficiency [RCV003634764] Chr16:30070036..30070037 [GRCh38]
Chr16:30081357..30081358 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.787-4C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV003634457] Chr16:30069495 [GRCh38]
Chr16:30080816 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.912C>T (p.Ala304=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003633284] Chr16:30069624 [GRCh38]
Chr16:30080945 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.541+8C>T single nucleotide variant HNSHA due to aldolase A deficiency [RCV003862277] Chr16:30068708 [GRCh38]
Chr16:30080029 [GRCh37]
Chr16:16p11.2
likely benign
GRCh38/hg38 16p11.2(chr16:29642391-30204353) copy number loss Epilepsy syndrome [RCV003986077] Chr16:29642391..30204353 [GRCh38]
Chr16:16p11.2
pathogenic|low penetrance
NM_001243177.4(ALDOA):c.787-2A>G single nucleotide variant HNSHA due to aldolase A deficiency [RCV003870388] Chr16:30069497 [GRCh38]
Chr16:30080818 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_001243177.4(ALDOA):c.423G>A (p.Lys141=) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003818893] Chr16:30067598 [GRCh38]
Chr16:30078919 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.486+19G>A single nucleotide variant HNSHA due to aldolase A deficiency [RCV003866566] Chr16:30067680 [GRCh38]
Chr16:30079001 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.763C>T (p.Arg255Cys) single nucleotide variant HNSHA due to aldolase A deficiency [RCV003818249] Chr16:30069366 [GRCh38]
Chr16:30080687 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.30C>T (p.Ser10=) single nucleotide variant ALDOA-related disorder [RCV003927095] Chr16:30066927 [GRCh38]
Chr16:30078248 [GRCh37]
Chr16:16p11.2
likely benign
NM_001243177.4(ALDOA):c.377C>A (p.Pro126His) single nucleotide variant Inborn genetic diseases [RCV004630219] Chr16:30067552 [GRCh38]
Chr16:30078873 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.367C>T (p.Arg123Cys) single nucleotide variant not provided [RCV004794179] Chr16:30067542 [GRCh38]
Chr16:30078863 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.512C>G (p.Ala171Gly) single nucleotide variant not provided [RCV004794180] Chr16:30068671 [GRCh38]
Chr16:30079992 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001243177.4(ALDOA):c.1169G>A (p.Ser390Asn) single nucleotide variant not provided [RCV004794181] Chr16:30070124 [GRCh38]
Chr16:30081445 [GRCh37]
Chr16:16p11.2
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR122hsa-miR-122-5pMirtarbaseexternal_infoNorthern blotFunctional MTI (Weak)18073344

Predicted Target Of
Summary Value
Count of predictions:8668
Count of miRNA genes:1093
Interacting mature miRNAs:1400
Transcripts:ENST00000338110, ENST00000395240, ENST00000395248, ENST00000412304, ENST00000562168, ENST00000562240, ENST00000562302, ENST00000562679, ENST00000563060, ENST00000563987, ENST00000564521, ENST00000564546, ENST00000564595, ENST00000564688, ENST00000565355, ENST00000566012, ENST00000566130, ENST00000566146, ENST00000566280, ENST00000566846, ENST00000566897, ENST00000567249, ENST00000567555, ENST00000568435, ENST00000569545, ENST00000569798, ENST00000575627
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597392601GWAS1488675_Happendicular lean mass QTL GWAS1488675 (human)1e-08appendicular lean mass163007004630070047Human
597367592GWAS1463666_Hrisk-taking behaviour QTL GWAS1463666 (human)3e-08risk-taking behaviour163007004630070047Human
597104514GWAS1200588_Hplatelet crit QTL GWAS1200588 (human)2e-16platelet critplateletcrit (CMO:0001349)163006717130067172Human
597089582GWAS1185656_Hmonocyte count QTL GWAS1185656 (human)2e-17monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)163006717130067172Human
597184321GWAS1280395_Halcohol consumption measurement QTL GWAS1280395 (human)1e-36response to alcohol trait (VT:0010489)ethanol drink intake rate (CMO:0001407)163006717130067172Human

Markers in Region
hsaldoa  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,075,027 - 30,075,302UniSTSGRCh37
Build 361629,982,528 - 29,982,803RGDNCBI36
Cytogenetic Map16p11.2UniSTS
RH80798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,081,522 - 30,081,723UniSTSGRCh37
Build 361629,989,023 - 29,989,224RGDNCBI36
Celera1672,713,997 - 72,714,198RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,742,790 - 27,742,991UniSTS
RH47250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,081,189 - 30,081,314UniSTSGRCh37
GRCh37352,228,547 - 52,228,672UniSTSGRCh37
Build 36352,203,587 - 52,203,712RGDNCBI36
Celera1672,714,406 - 72,714,531UniSTS
Celera352,207,859 - 52,207,984RGD
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3p21.2UniSTS
HuRef1627,742,457 - 27,742,582UniSTS
HuRef352,290,739 - 52,290,864UniSTS
RH67859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,081,520 - 30,081,688UniSTSGRCh37
Build 361629,989,021 - 29,989,189RGDNCBI36
Celera1672,714,032 - 72,714,200RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,742,788 - 27,742,956UniSTS
D10S1286E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,081,503 - 30,081,670UniSTSGRCh37
GRCh3710127,355,309 - 127,355,474UniSTSGRCh37
Build 3610127,345,299 - 127,345,464RGDNCBI36
Celera1672,714,050 - 72,714,217UniSTS
Celera10121,130,723 - 121,130,888RGD
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q26.13UniSTS
HuRef1627,742,771 - 27,742,938UniSTS
HuRef10121,044,705 - 121,044,870UniSTS
D16S2545E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,077,176 - 30,078,624UniSTSGRCh37
Build 361629,984,677 - 29,986,125RGDNCBI36
Celera1672,717,096 - 72,718,544RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,738,445 - 27,739,893UniSTS
GDB:451697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,228,200 - 52,228,522UniSTSGRCh37
Build 36352,203,240 - 52,203,562RGDNCBI36
Celera352,207,512 - 52,207,834RGD
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3p21.2UniSTS
HuRef352,290,392 - 52,290,714UniSTS
D10S2367  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,081,527 - 30,081,671UniSTSGRCh37
Build 361629,989,028 - 29,989,172RGDNCBI36
Celera1672,714,049 - 72,714,193RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,742,795 - 27,742,939UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2271 4999 1744 2371 5 642 2316 483 2269 7727 6859 53 3760 1 868 1774 1619 175 1

Sequence


Ensembl Acc Id: ENST00000338110   ⟹   ENSP00000336927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,053,151 - 30,070,414 (+)Ensembl
Ensembl Acc Id: ENST00000395248   ⟹   ENSP00000378669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,053,123 - 30,070,403 (+)Ensembl
Ensembl Acc Id: ENST00000562240   ⟹   ENSP00000494734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,053,160 - 30,064,038 (+)Ensembl
Ensembl Acc Id: ENST00000566280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,053,338 - 30,055,207 (+)Ensembl
Ensembl Acc Id: ENST00000566897   ⟹   ENSP00000455724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,053,127 - 30,070,413 (+)Ensembl
Ensembl Acc Id: ENST00000567249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,054,575 - 30,055,328 (+)Ensembl
Ensembl Acc Id: ENST00000568435   ⟹   ENSP00000457683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,053,134 - 30,067,290 (+)Ensembl
Ensembl Acc Id: ENST00000575627   ⟹   ENSP00000494290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,053,127 - 30,063,928 (+)Ensembl
Ensembl Acc Id: ENST00000627059   ⟹   ENSP00000485952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,053,090 - 30,070,420 (+)Ensembl
RefSeq Acc Id: NM_001365304   ⟹   NP_001352233
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,053,151 - 30,070,414 (+)NCBI
T2T-CHM13v2.01630,335,801 - 30,353,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365305   ⟹   NP_001352234
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,053,151 - 30,070,414 (+)NCBI
T2T-CHM13v2.01630,335,801 - 30,353,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365307   ⟹   NP_001352236
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,053,151 - 30,070,414 (+)NCBI
T2T-CHM13v2.01630,335,801 - 30,353,059 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001352234   ⟸   NM_001365305
- Peptide Label: isoform 2
- UniProtKB: H3BUK5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352233   ⟸   NM_001365304
- Peptide Label: isoform 1
- UniProtKB: A0A2U3TZJ4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352236   ⟸   NM_001365307
- Peptide Label: isoform 1
- UniProtKB: A0A2U3TZJ4 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000336927   ⟸   ENST00000338110
Ensembl Acc Id: ENSP00000485952   ⟸   ENST00000627059
Ensembl Acc Id: ENSP00000494290   ⟸   ENST00000575627
Ensembl Acc Id: ENSP00000494734   ⟸   ENST00000562240
Ensembl Acc Id: ENSP00000378669   ⟸   ENST00000395248
Ensembl Acc Id: ENSP00000455724   ⟸   ENST00000566897
Ensembl Acc Id: ENSP00000457683   ⟸   ENST00000568435

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A2U3TZM8-F1-model_v2 AlphaFold A0A2U3TZM8 1-278 view protein structure

Promoters
RGD ID:6792790
Promoter ID:HG_KWN:23502
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000395248,   NM_000034,   UC002DVW.1,   UC010BZO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361629,971,661 - 29,972,161 (+)MPROMDB
RGD ID:6792793
Promoter ID:HG_KWN:23503
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001127617,   NM_184043,   UC002DVY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361629,982,831 - 29,983,331 (+)MPROMDB
RGD ID:6849808
Promoter ID:EP26015
Type:initiation region
Name:HS_ALDOA_1
Description:Aldolase A.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 4; 5' exon 1; site 1.; see alsoEP26016  EP26017  EP26018  
Experiment Methods:Nuclease protection; Primer extension; NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361629,983,032 - 29,983,092EPD
RGD ID:6849812
Promoter ID:EP26016
Type:single initiation site
Name:HS_ALDOA_2
Description:Aldolase A.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 148; Mammalian aldolase A E1/E3.
Alternative Promoters:alternative promoter #2 of 4; 5' exon 3; site 1.; see alsoEP26015  EP26017  EP26018  
Tissues & Cell Lines:skeletal muscle
Experiment Methods:Nuclease protection; Primer extension; NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361629,983,561 - 29,983,621EPD
RGD ID:6792792
Promoter ID:HG_KWN:23504
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000255145,   UC002DWB.1,   UC002DWD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361629,983,936 - 29,984,677 (+)MPROMDB
RGD ID:6849816
Promoter ID:EP26017
Type:initiation region
Name:HS_ALDOA_3
Description:Aldolase A.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 149; Mammalian aldolase A E2/E4 promoter 1.
Alternative Promoters:alternative promoter #3 of 4; 5' exon 4; site 1.; see alsoEP26015  EP26016  EP26018  
Experiment Methods:Nuclease protection; Primer extension; NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361629,984,584 - 29,984,644EPD
RGD ID:6849820
Promoter ID:EP26018
Type:initiation region
Name:HS_ALDOA_4
Description:Aldolase A.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 150; Mammalian aldolase A E2/E4 promoter 2.
Alternative Promoters:alternative promoter #4 of 4; 5' exon 4; site 2.; see alsoEP26015  EP26016  EP26017  
Experiment Methods:Nuclease protection; Primer extension; NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361629,984,643 - 29,984,703EPD
RGD ID:6810882
Promoter ID:HG_ACW:30229
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ALDOA.KAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361629,985,786 - 29,986,286 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:414 AgrOrtholog
COSMIC ALDOA COSMIC
Ensembl Genes ENSG00000149925 Ensembl
  ENSG00000285043 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000338110 ENTREZGENE
  ENST00000338110.11 UniProtKB/TrEMBL
  ENST00000395248.6 UniProtKB/TrEMBL
  ENST00000562240.1 UniProtKB/TrEMBL
  ENST00000566897 ENTREZGENE
  ENST00000566897.6 UniProtKB/TrEMBL
  ENST00000568435.6 UniProtKB/TrEMBL
  ENST00000575627.5 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.70 UniProtKB/TrEMBL
GTEx ENSG00000149925 GTEx
  ENSG00000285043 GTEx
Human Proteome Map ALDOA Human Proteome Map
InterPro Aldolase_I_AS UniProtKB/TrEMBL
  Aldolase_TIM UniProtKB/TrEMBL
  FBA_I UniProtKB/TrEMBL
NCBI Gene LOC112694756 ENTREZGENE
PANTHER PTHR11627 UniProtKB/TrEMBL
Pfam Glycolytic UniProtKB/TrEMBL
PROSITE ALDOLASE_CLASS_I UniProtKB/TrEMBL
Superfamily-SCOP Aldolase UniProtKB/TrEMBL
UniProt A0A0M4FNU3_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4T6_HUMAN UniProtKB/TrEMBL
  A0A2R8YDM7_HUMAN UniProtKB/TrEMBL
  A0A2U3TZJ4 ENTREZGENE, UniProtKB/TrEMBL
  A0A2U3TZM8_HUMAN UniProtKB/TrEMBL
  H3BUK5 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ALDOA  aldolase, fructose-bisphosphate A    aldolase A, fructose-bisphosphate  Symbol and/or name change 5135510 APPROVED