CHMP1A (charged multivesicular body protein 1A) - Rat Genome Database

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Gene: CHMP1A (charged multivesicular body protein 1A) Homo sapiens
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Symbol: CHMP1A
Name: charged multivesicular body protein 1A
RGD ID: 1346526
HGNC Page HGNC:8740
Description: Enables protein domain specific binding activity and protein homodimerization activity. Involved in several processes, including midbody abscission; plasma membrane repair; and regulation of cell cycle process. Acts upstream of or within mitotic chromosome condensation and negative regulation of gene expression. Located in several cellular components, including centrosome; early endosome; and nuclear lumen. Part of several cellular components, including bounding membrane of organelle; kinetochore microtubule; and midbody. Implicated in pontocerebellar hypoplasia type 8.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: charged multivesicular body protein 1/chromatin modifying protein 1; CHMP1; chromatin modifying protein 1A; chromatin-modifying protein 1a; hVps46-1; KIAA0047; PCH8; PCOLN3; procollagen (type III) N-endopeptidase; protease, metallo, 1, 33kD; PRSM1; vacuolar protein sorting-associated protein 46-1; VPS46 homolog A; VPS46-1; Vps46A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CHMP1AP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381689,644,435 - 89,657,708 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1689,640,816 - 89,657,738 (-)EnsemblGRCh38hg38GRCh38
GRCh371689,710,843 - 89,724,116 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361688,238,344 - 88,251,630 (-)NCBINCBI36Build 36hg18NCBI36
Build 341688,238,345 - 88,251,754NCBI
Celera1674,775,335 - 74,788,601 (-)NCBICelera
Cytogenetic Map16q24.3NCBI
HuRef1675,406,208 - 75,419,708 (-)NCBIHuRef
CHM1_11691,122,139 - 91,134,975 (-)NCBICHM1_1
T2T-CHM13v2.01695,728,224 - 95,742,519 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7584044   PMID:8863740   PMID:8889548   PMID:9837962   PMID:11559747   PMID:11559748   PMID:12445808   PMID:12477932   PMID:14505569   PMID:14505570   PMID:14519844   PMID:15489334  
PMID:15604093   PMID:16505166   PMID:16554368   PMID:16730941   PMID:16760479   PMID:17353931   PMID:17711858   PMID:17928862   PMID:17984323   PMID:18787405   PMID:19056867   PMID:19129479  
PMID:19129480   PMID:19234443   PMID:19302785   PMID:19640981   PMID:20588296   PMID:20616062   PMID:21674799   PMID:21705858   PMID:21873635   PMID:21988832   PMID:22261332   PMID:22658674  
PMID:22939629   PMID:23023333   PMID:23045692   PMID:23273016   PMID:23376485   PMID:23456168   PMID:23748770   PMID:24482116   PMID:24705354   PMID:24878737   PMID:25959826   PMID:25963833  
PMID:26040712   PMID:26040713   PMID:26186194   PMID:26496610   PMID:26549023   PMID:28077445   PMID:28514442   PMID:28515276   PMID:29247346   PMID:29509190   PMID:30044992   PMID:30471916  
PMID:30572598   PMID:31048545   PMID:31091453   PMID:31324722   PMID:31540324   PMID:32296183   PMID:32814053   PMID:33001583   PMID:33545068   PMID:33637726   PMID:33644029   PMID:33961781  
PMID:34349018   PMID:34426578   PMID:34672954   PMID:35182466   PMID:35271311   PMID:35831314   PMID:35944360   PMID:36107470   PMID:36244648  


Genomics

Comparative Map Data
CHMP1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381689,644,435 - 89,657,708 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1689,640,816 - 89,657,738 (-)EnsemblGRCh38hg38GRCh38
GRCh371689,710,843 - 89,724,116 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361688,238,344 - 88,251,630 (-)NCBINCBI36Build 36hg18NCBI36
Build 341688,238,345 - 88,251,754NCBI
Celera1674,775,335 - 74,788,601 (-)NCBICelera
Cytogenetic Map16q24.3NCBI
HuRef1675,406,208 - 75,419,708 (-)NCBIHuRef
CHM1_11691,122,139 - 91,134,975 (-)NCBICHM1_1
T2T-CHM13v2.01695,728,224 - 95,742,519 (-)NCBIT2T-CHM13v2.0
Chmp1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398123,931,000 - 123,939,527 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8123,931,003 - 123,939,502 (-)EnsemblGRCm39 Ensembl
GRCm388123,204,261 - 123,212,788 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8123,204,264 - 123,212,763 (-)EnsemblGRCm38mm10GRCm38
MGSCv378125,728,161 - 125,736,688 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368126,090,354 - 126,098,828 (-)NCBIMGSCv36mm8
Celera8127,435,808 - 127,451,781 (-)NCBICelera
Cytogenetic Map8E1NCBI
cM Map872.08NCBI
Chmp1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81968,146,672 - 68,154,952 (-)NCBIGRCr8
mRatBN7.21951,238,153 - 51,246,433 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1951,238,160 - 51,246,436 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1958,033,361 - 58,041,363 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01958,713,074 - 58,721,354 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01960,931,961 - 60,939,963 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01956,001,724 - 56,010,004 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1956,001,724 - 56,010,004 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01966,707,177 - 66,715,457 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41953,521,981 - 53,530,261 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11953,529,029 - 53,531,632 (-)NCBI
Celera1950,473,734 - 50,481,997 (-)NCBICelera
Cytogenetic Map19q12NCBI
Chmp1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555413,216,972 - 3,223,634 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555413,216,972 - 3,223,636 (-)NCBIChiLan1.0ChiLan1.0
CHMP1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21899,434,669 - 99,448,095 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan116105,348,049 - 105,361,467 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01670,398,021 - 70,411,383 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11690,003,892 - 90,017,653 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1690,003,892 - 90,017,653 (-)Ensemblpanpan1.1panPan2
CHMP1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1563,897,544 - 63,906,515 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl563,897,594 - 63,905,550 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha563,910,397 - 63,919,629 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0564,125,390 - 64,134,623 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl564,125,425 - 64,134,621 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1564,145,452 - 64,154,671 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0563,983,044 - 63,992,276 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0564,389,618 - 64,398,851 (+)NCBIUU_Cfam_GSD_1.0
Chmp1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934924,612,956 - 24,622,756 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936641366,569 - 376,337 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936641366,563 - 376,303 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHMP1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6351,866 - 358,653 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16351,878 - 358,655 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26478,538 - 485,468 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CHMP1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1574,990,706 - 75,002,074 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl574,990,410 - 75,001,988 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666047498,027 - 509,396 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chmp1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624746302,404 - 309,644 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624746302,344 - 309,117 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CHMP1A
198 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002768.5(CHMP1A):c.28-13G>A single nucleotide variant Pontocerebellar hypoplasia type 8 [RCV000033060] Chr16:89651659 [GRCh38]
Chr16:89718067 [GRCh37]
Chr16:16q24.3
pathogenic
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) single nucleotide variant CHMP1A-related disorder [RCV004757955]|Pontocerebellar hypoplasia type 8 [RCV000033059]|not provided [RCV000321930] Chr16:89651586 [GRCh38]
Chr16:89717994 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q24.3(chr16:89570545-89814613)x1 copy number loss See cases [RCV000052021] Chr16:89570545..89814613 [GRCh38]
Chr16:89636953..89881021 [GRCh37]
Chr16:88164454..88408522 [NCBI36]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3
pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 copy number gain See cases [RCV000052428] Chr16:87853401..90081985 [GRCh38]
Chr16:87887007..90148393 [GRCh37]
Chr16:86444508..88675894 [NCBI36]
Chr16:16q24.2-24.3
pathogenic
NM_002768.5(CHMP1A):c.382-8G>T single nucleotide variant not provided [RCV000893859]|not specified [RCV000116704] Chr16:89646722 [GRCh38]
Chr16:89713130 [GRCh37]
Chr16:16q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002768.5(CHMP1A):c.51G>A (p.Lys17=) single nucleotide variant CHMP1A-related disorder [RCV003952567]|Pontocerebellar hypoplasia type 8 [RCV001334084]|not provided [RCV000963149]|not specified [RCV000116705] Chr16:89651623 [GRCh38]
Chr16:89718031 [GRCh37]
Chr16:16q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002768.5(CHMP1A):c.27+10G>A single nucleotide variant not provided [RCV000842497]|not specified [RCV000175735] Chr16:89653894 [GRCh38]
Chr16:89720302 [GRCh37]
Chr16:16q24.3
benign|likely benign
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q24.3(chr16:89608619-89821113)x1 copy number loss See cases [RCV000137427] Chr16:89608619..89821113 [GRCh38]
Chr16:89675027..89887521 [GRCh37]
Chr16:88202528..88415022 [NCBI36]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 copy number gain See cases [RCV000138161] Chr16:87848216..90096995 [GRCh38]
Chr16:87881822..90163403 [GRCh37]
Chr16:86439323..88690904 [NCBI36]
Chr16:16q24.2-24.3
likely pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q24.3(chr16:89481626-89665765)x3 copy number gain See cases [RCV000138278] Chr16:89481626..89665765 [GRCh38]
Chr16:89548034..89732173 [GRCh37]
Chr16:88075535..88259674 [NCBI36]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q24.3(chr16:89586679-89648483)x3 copy number gain See cases [RCV000140348] Chr16:89586679..89648483 [GRCh38]
Chr16:89653087..89714891 [GRCh37]
Chr16:88180588..88242392 [NCBI36]
Chr16:16q24.3
likely benign
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q24.3(chr16:89610227-89829851)x1 copy number loss See cases [RCV000141836] Chr16:89610227..89829851 [GRCh38]
Chr16:89676635..89896259 [GRCh37]
Chr16:88204136..88423760 [NCBI36]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
NM_002768.5(CHMP1A):c.198G>A (p.Ala66=) single nucleotide variant CHMP1A-related disorder [RCV003947515]|not provided [RCV000724421]|not specified [RCV000178183] Chr16:89649405 [GRCh38]
Chr16:89649405..89649406 [GRCh38]
Chr16:89715813 [GRCh37]
Chr16:89715813..89715814 [GRCh37]
Chr16:16q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002768.5(CHMP1A):c.210C>T (p.Asp70=) single nucleotide variant CHMP1A-related disorder [RCV003927774]|not provided [RCV000916510]|not specified [RCV000194413] Chr16:89649393 [GRCh38]
Chr16:89715801 [GRCh37]
Chr16:16q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3
pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3
uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3 copy number gain See cases [RCV000240330] Chr16:89696893..90103214 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3 copy number gain See cases [RCV000240352] Chr16:88601532..89713753 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
NM_002768.5(CHMP1A):c.114G>A (p.Leu38=) single nucleotide variant Inborn genetic diseases [RCV003165771]|not provided [RCV000325943] Chr16:89649489 [GRCh38]
Chr16:89715897 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.253-102G>A single nucleotide variant not provided [RCV001565740] Chr16:89647433 [GRCh38]
Chr16:89713841 [GRCh37]
Chr16:16q24.3
likely benign
NC_000016.10:g.89657755C>A single nucleotide variant not provided [RCV001571525] Chr16:89657755 [GRCh38]
Chr16:89724163 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.7+286C>G single nucleotide variant not provided [RCV001546851] Chr16:89657296 [GRCh38]
Chr16:89723704 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.*392C>G single nucleotide variant not provided [RCV001575052] Chr16:89645674 [GRCh38]
Chr16:89712082 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.108C>T (p.Ala36=) single nucleotide variant Inborn genetic diseases [RCV000624901]|not specified [RCV004586837] Chr16:89649495 [GRCh38]
Chr16:89715903 [GRCh37]
Chr16:16q24.3
pathogenic|uncertain significance
NM_002768.5(CHMP1A):c.33G>A (p.Thr11=) single nucleotide variant CHMP1A-related disorder [RCV003953045]|not provided [RCV000919528] Chr16:89651641 [GRCh38]
Chr16:89718049 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.147C>T (p.Ala49=) single nucleotide variant not provided [RCV000593267] Chr16:89649456 [GRCh38]
Chr16:89715864 [GRCh37]
Chr16:16q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_002768.5(CHMP1A):c.558G>C (p.Gln186His) single nucleotide variant not provided [RCV000732733] Chr16:89646538 [GRCh38]
Chr16:89712946 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.105+168GTTT[8] microsatellite not provided [RCV001572092] Chr16:89651373..89651374 [GRCh38]
Chr16:89717781..89717782 [GRCh37]
Chr16:16q24.3
likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_002768.5(CHMP1A):c.-31C>T single nucleotide variant not provided [RCV004710026]|not specified [RCV000423591] Chr16:89657619 [GRCh38]
Chr16:89724027 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.*95G>A single nucleotide variant CHMP1A-related disorder [RCV003972623]|not provided [RCV004711065]|not specified [RCV000427386] Chr16:89645971 [GRCh38]
Chr16:89712379 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.507C>T (p.Pro169=) single nucleotide variant CHMP1A-related disorder [RCV003912696]|not provided [RCV000972320] Chr16:89646589 [GRCh38]
Chr16:89712997 [GRCh37]
Chr16:16q24.3
benign|likely benign
NM_002768.5(CHMP1A):c.*100T>G single nucleotide variant not provided [RCV004710008]|not specified [RCV000442032] Chr16:89645966 [GRCh38]
Chr16:89712374 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.106-11G>C single nucleotide variant not provided [RCV002062374]|not specified [RCV000421120] Chr16:89649508 [GRCh38]
Chr16:89715916 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.7+13G>T single nucleotide variant not provided [RCV002522600]|not specified [RCV000421451] Chr16:89657569 [GRCh38]
Chr16:89723977 [GRCh37]
Chr16:16q24.3
benign|likely benign
NM_002768.5(CHMP1A):c.*94C>T single nucleotide variant not provided [RCV004710007]|not specified [RCV000432697] Chr16:89645972 [GRCh38]
Chr16:89712380 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.*7C>T single nucleotide variant not provided [RCV004705577]|not specified [RCV000430116] Chr16:89646059 [GRCh38]
Chr16:89712467 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.408C>T (p.Ala136=) single nucleotide variant Inborn genetic diseases [RCV002522549]|not provided [RCV000913316]|not specified [RCV000430349] Chr16:89646688 [GRCh38]
Chr16:89713096 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_002768.5(CHMP1A):c.570-20G>C single nucleotide variant not provided [RCV002058914]|not specified [RCV000444868] Chr16:89646107 [GRCh38]
Chr16:89712515 [GRCh37]
Chr16:16q24.3
benign
GRCh37/hg19 16q24.3(chr16:88985997-89962916)x3 copy number gain See cases [RCV000447971] Chr16:88985997..89962916 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.346G>C (p.Glu116Gln) single nucleotide variant not provided [RCV000486889] Chr16:89647238 [GRCh38]
Chr16:89713646 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3
likely pathogenic
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) single nucleotide variant Pontocerebellar hypoplasia type 1A [RCV000626145]|Pontocerebellar hypoplasia type 8 [RCV004595520] Chr16:89647238 [GRCh38]
Chr16:89713646 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q24.3(chr16:89689822-89726926)x3 copy number gain not specified [RCV000515719] Chr16:89689822..89726926 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.253-17G>A single nucleotide variant not provided [RCV002063238]|not specified [RCV000610743] Chr16:89647348 [GRCh38]
Chr16:89713756 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.7+17G>A single nucleotide variant not specified [RCV000611440] Chr16:89657565 [GRCh38]
Chr16:89723973 [GRCh37]
Chr16:16q24.3
likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
NM_002768.5(CHMP1A):c.204C>T (p.Arg68=) single nucleotide variant Pontocerebellar hypoplasia type 8 [RCV001335648]|not provided [RCV000909755] Chr16:89649399 [GRCh38]
Chr16:89715807 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3
likely pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3
pathogenic
NM_002768.5(CHMP1A):c.205G>A (p.Val69Ile) single nucleotide variant not provided [RCV001760514] Chr16:89649398 [GRCh38]
Chr16:89715806 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3
pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q24.3(chr16:89273883-89900237)x3 copy number gain not provided [RCV000739305] Chr16:89273883..89900237 [GRCh37]
Chr16:16q24.3
benign
GRCh37/hg19 16q24.3(chr16:89712889-89714818)x1 copy number loss not provided [RCV000739307] Chr16:89712889..89714818 [GRCh37]
Chr16:16q24.3
benign
NC_000016.10:g.89657860C>T single nucleotide variant not provided [RCV001541856] Chr16:89657860 [GRCh38]
Chr16:89724268 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.28-37C>T single nucleotide variant not provided [RCV001547837] Chr16:89651683 [GRCh38]
Chr16:89718091 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.106-316A>G single nucleotide variant not provided [RCV001574904] Chr16:89649813 [GRCh38]
Chr16:89716221 [GRCh37]
Chr16:16q24.3
likely benign
NC_000016.10:g.89657758T>C single nucleotide variant not provided [RCV001547206] Chr16:89657758 [GRCh38]
Chr16:89724166 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.7+261C>A single nucleotide variant not provided [RCV001581876] Chr16:89657321 [GRCh38]
Chr16:89723729 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.253-275T>C single nucleotide variant not provided [RCV001574643] Chr16:89647606 [GRCh38]
Chr16:89714014 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.253-242C>T single nucleotide variant not provided [RCV001576023] Chr16:89647573 [GRCh38]
Chr16:89713981 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.253-283A>G single nucleotide variant not provided [RCV000826863] Chr16:89647614 [GRCh38]
Chr16:89647614..89647615 [GRCh38]
Chr16:89714022 [GRCh37]
Chr16:89714022..89714023 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.252+5G>T single nucleotide variant Intellectual disability [RCV000856701] Chr16:89649346 [GRCh38]
Chr16:89715754 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.253-272A>G single nucleotide variant not provided [RCV000833127] Chr16:89647603 [GRCh38]
Chr16:89714011 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.252+111C>T single nucleotide variant not provided [RCV000839839] Chr16:89649240 [GRCh38]
Chr16:89649240..89649241 [GRCh38]
Chr16:89715648 [GRCh37]
Chr16:89715648..89715649 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.253-250T>C single nucleotide variant not provided [RCV000839840] Chr16:89647581 [GRCh38]
Chr16:89713989 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.253-241A>G single nucleotide variant not provided [RCV000839842] Chr16:89647572 [GRCh38]
Chr16:89713980 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.253-230A>G single nucleotide variant not provided [RCV000839844] Chr16:89647561 [GRCh38]
Chr16:89713969 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.382-52G>A single nucleotide variant not provided [RCV000839847] Chr16:89646766 [GRCh38]
Chr16:89713174 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.105+233T>C single nucleotide variant not provided [RCV000839965] Chr16:89651336 [GRCh38]
Chr16:89717744 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.253-199A>G single nucleotide variant not provided [RCV000839970] Chr16:89647530 [GRCh38]
Chr16:89647530..89647531 [GRCh38]
Chr16:89713938 [GRCh37]
Chr16:89713938..89713939 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.382-7C>T single nucleotide variant not provided [RCV000937870] Chr16:89646721 [GRCh38]
Chr16:89713129 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.253-26C>T single nucleotide variant not provided [RCV000838615] Chr16:89647357 [GRCh38]
Chr16:89713765 [GRCh37]
Chr16:16q24.3
likely benign
GRCh37/hg19 16q24.3(chr16:89662327-89927634)x1 copy number loss not provided [RCV000849906] Chr16:89662327..89927634 [GRCh37]
Chr16:16q24.3
uncertain significance
NC_000016.10:g.89653894C>T single nucleotide variant not provided [RCV000842497] Chr16:89720302 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.253-317C>T single nucleotide variant not provided [RCV000826862] Chr16:89647648 [GRCh38]
Chr16:89714056 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.105+266C>T single nucleotide variant not provided [RCV000826861] Chr16:89651303 [GRCh38]
Chr16:89717711 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.106-235A>G single nucleotide variant not provided [RCV000838768] Chr16:89649732 [GRCh38]
Chr16:89716140 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.252+95G>A single nucleotide variant not provided [RCV000838769] Chr16:89649256 [GRCh38]
Chr16:89715664 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.106-317C>A single nucleotide variant not provided [RCV000827850] Chr16:89649814 [GRCh38]
Chr16:89649814..89649815 [GRCh38]
Chr16:89716222 [GRCh37]
Chr16:89716222..89716223 [GRCh37]
Chr16:16q24.3
benign
GRCh37/hg19 16q24.3(chr16:89688616-89828326)x1 copy number loss not provided [RCV000847869] Chr16:89688616..89828326 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89666802-89760599)x3 copy number gain not provided [RCV000849059] Chr16:89666802..89760599 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89443552-89726484)x3 copy number gain not provided [RCV000845847] Chr16:89443552..89726484 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.559C>G (p.Leu187Val) single nucleotide variant Pontocerebellar hypoplasia type 8 [RCV004813535] Chr16:89646537 [GRCh38]
Chr16:89712945 [GRCh37]
uncertain significance
NM_002768.5(CHMP1A):c.541C>T (p.Arg181Cys) single nucleotide variant not provided [RCV004776796] Chr16:89646555 [GRCh38]
Chr16:89712963 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.570-128T>G single nucleotide variant not provided [RCV001575700] Chr16:89646215 [GRCh38]
Chr16:89712623 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.253-250T>G single nucleotide variant not provided [RCV001547741] Chr16:89647581 [GRCh38]
Chr16:89713989 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.253-306G>C single nucleotide variant not provided [RCV001578124] Chr16:89647637 [GRCh38]
Chr16:89714045 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.405G>A (p.Ser135=) single nucleotide variant Inborn genetic diseases [RCV003251986]|not provided [RCV003427717] Chr16:89646691 [GRCh38]
Chr16:89713099 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.*436T>G single nucleotide variant not provided [RCV001555352] Chr16:89645630 [GRCh38]
Chr16:89712038 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.569+202G>A single nucleotide variant not provided [RCV001550404] Chr16:89646325 [GRCh38]
Chr16:89712733 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.253-292C>G single nucleotide variant not provided [RCV001589440] Chr16:89647623 [GRCh38]
Chr16:89714031 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.8-150dup duplication not provided [RCV001557736] Chr16:89654065..89654066 [GRCh38]
Chr16:89720473..89720474 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.252+63G>A single nucleotide variant not provided [RCV001557843] Chr16:89649288 [GRCh38]
Chr16:89715696 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.569+154G>A single nucleotide variant not provided [RCV001571980] Chr16:89646373 [GRCh38]
Chr16:89712781 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.382-103dup duplication not provided [RCV001552233] Chr16:89646815..89646816 [GRCh38]
Chr16:89713223..89713224 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.171C>T (p.Asn57=) single nucleotide variant not provided [RCV000915042] Chr16:89649432 [GRCh38]
Chr16:89715840 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.258C>G (p.Thr86=) single nucleotide variant not provided [RCV000917216] Chr16:89647326 [GRCh38]
Chr16:89713734 [GRCh37]
Chr16:16q24.3
likely benign
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NM_002768.5(CHMP1A):c.213A>G (p.Ala71=) single nucleotide variant CHMP1A-related disorder [RCV004731055]|not provided [RCV000891034] Chr16:89649390 [GRCh38]
Chr16:89715798 [GRCh37]
Chr16:16q24.3
benign|likely benign
NM_002768.5(CHMP1A):c.106-142C>T single nucleotide variant not provided [RCV001561731] Chr16:89649639 [GRCh38]
Chr16:89716047 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.252+88A>G single nucleotide variant not provided [RCV001561801] Chr16:89649263 [GRCh38]
Chr16:89715671 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.8-165C>A single nucleotide variant not provided [RCV001569623] Chr16:89654088 [GRCh38]
Chr16:89720496 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.380C>G (p.Ser127Trp) single nucleotide variant Inborn genetic diseases [RCV004039322]|not provided [RCV001562204] Chr16:89647204 [GRCh38]
Chr16:89713612 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.253-54G>A single nucleotide variant not provided [RCV001577239] Chr16:89647385 [GRCh38]
Chr16:89713793 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.381+36G>C single nucleotide variant not provided [RCV001556871] Chr16:89647167 [GRCh38]
Chr16:89713575 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.253-208T>C single nucleotide variant not provided [RCV001661039] Chr16:89647539 [GRCh38]
Chr16:89713947 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.106-271C>T single nucleotide variant not provided [RCV001568255] Chr16:89649768 [GRCh38]
Chr16:89716176 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.28-169C>T single nucleotide variant not provided [RCV001558087] Chr16:89651815 [GRCh38]
Chr16:89718223 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.106-179A>G single nucleotide variant not provided [RCV001576279] Chr16:89649676 [GRCh38]
Chr16:89716084 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.106-190A>G single nucleotide variant not provided [RCV001593358] Chr16:89649687 [GRCh38]
Chr16:89716095 [GRCh37]
Chr16:16q24.3
likely benign
NC_000016.10:g.89657905C>G single nucleotide variant not provided [RCV001619469] Chr16:89657905 [GRCh38]
Chr16:89724313 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.252+163_252+193del deletion not provided [RCV001545599] Chr16:89649158..89649188 [GRCh38]
Chr16:89715566..89715596 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.-94_-81del deletion not provided [RCV001590697] Chr16:89657669..89657682 [GRCh38]
Chr16:89724077..89724090 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.*336A>C single nucleotide variant not provided [RCV001596395] Chr16:89645730 [GRCh38]
Chr16:89712138 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.381+48G>C single nucleotide variant not provided [RCV001637900] Chr16:89647155 [GRCh38]
Chr16:89713563 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.252+154_252+218del deletion not provided [RCV001635729] Chr16:89649133..89649197 [GRCh38]
Chr16:89715541..89715605 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.252+143C>T single nucleotide variant not provided [RCV001713166] Chr16:89649208 [GRCh38]
Chr16:89715616 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.569+46G>A single nucleotide variant not provided [RCV001708291] Chr16:89646481 [GRCh38]
Chr16:89712889 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.7+120C>T single nucleotide variant not provided [RCV001714532] Chr16:89657462 [GRCh38]
Chr16:89723870 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.253-270G>A single nucleotide variant not provided [RCV001689545] Chr16:89647601 [GRCh38]
Chr16:89714009 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.382-175G>T single nucleotide variant not provided [RCV001589803] Chr16:89646889 [GRCh38]
Chr16:89713297 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.106-102C>T single nucleotide variant not provided [RCV001580908] Chr16:89649599 [GRCh38]
Chr16:89716007 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.105+105G>A single nucleotide variant not provided [RCV001725294] Chr16:89651464 [GRCh38]
Chr16:89717872 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.252+37C>T single nucleotide variant not provided [RCV001590100] Chr16:89649314 [GRCh38]
Chr16:89715722 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.381+217G>T single nucleotide variant not provided [RCV001652566] Chr16:89646986 [GRCh38]
Chr16:89713394 [GRCh37]
Chr16:16q24.3
benign
GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3 copy number gain not provided [RCV001259286] Chr16:89499489..90125146 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89156662-90023446)x3 copy number gain not provided [RCV001258667] Chr16:89156662..90023446 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.277A>G (p.Thr93Ala) single nucleotide variant Pontocerebellar hypoplasia type 8 [RCV001334083] Chr16:89647307 [GRCh38]
Chr16:89713715 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3 copy number gain not provided [RCV001258663] Chr16:88222732..90155062 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89620873-89881041) copy number loss Fanconi anemia complementation group A [RCV001535965] Chr16:89620873..89881041 [GRCh37]
Chr16:16q24.3
pathogenic
NM_002768.5(CHMP1A):c.28-14C>T single nucleotide variant CHMP1A-related disorder [RCV003953653]|not provided [RCV001311465] Chr16:89651660 [GRCh38]
Chr16:89718068 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.*93G>A single nucleotide variant Pontocerebellar hypoplasia type 8 [RCV001334082] Chr16:89645973 [GRCh38]
Chr16:89712381 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.28-168G>A single nucleotide variant not provided [RCV001581667] Chr16:89651814 [GRCh38]
Chr16:89718222 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.130T>A (p.Cys44Ser) single nucleotide variant Inborn genetic diseases [RCV002546293]|Pontocerebellar hypoplasia type 8 [RCV001328987]|not provided [RCV002546294] Chr16:89649473 [GRCh38]
Chr16:89715881 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.106-3C>T single nucleotide variant Pontocerebellar hypoplasia type 8 [RCV001328986] Chr16:89649500 [GRCh38]
Chr16:89715908 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.105+168GTTT[6] microsatellite not provided [RCV001714680] Chr16:89651374..89651377 [GRCh38]
Chr16:89717782..89717785 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.8-78A>T single nucleotide variant not provided [RCV001717298] Chr16:89654001 [GRCh38]
Chr16:89720409 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.105+255dup duplication not provided [RCV001665252] Chr16:89651313..89651314 [GRCh38]
Chr16:89717721..89717722 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.253-234C>G single nucleotide variant not provided [RCV001608962] Chr16:89647565 [GRCh38]
Chr16:89713973 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.381+188G>A single nucleotide variant not provided [RCV001652721] Chr16:89647015 [GRCh38]
Chr16:89713423 [GRCh37]
Chr16:16q24.3
benign
NC_000016.9:g.89645037_89810099del deletion Fanconi anemia complementation group A [RCV001256631] Chr16:89645037..89810099 [GRCh37]
Chr16:16q24.3
uncertain significance
NC_000016.9:g.(?_87636753)_(90109753_?)dup duplication Fanconi anemia [RCV004579589]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003119313]|Primary ciliary dyskinesia 33 [RCV003109228] Chr16:87636753..90109753 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
NM_002768.5(CHMP1A):c.197C>T (p.Ala66Val) single nucleotide variant not provided [RCV001770780] Chr16:89649406 [GRCh38]
Chr16:89715814 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.81G>C (p.Lys27Asn) single nucleotide variant not provided [RCV001763759] Chr16:89651593 [GRCh38]
Chr16:89718001 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.552G>C (p.Glu184Asp) single nucleotide variant not provided [RCV001765824] Chr16:89646544 [GRCh38]
Chr16:89712952 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3
pathogenic
NM_002768.5(CHMP1A):c.570-1G>C single nucleotide variant not specified [RCV001806820] Chr16:89646088 [GRCh38]
Chr16:89712496 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3 copy number gain not provided [RCV001827759] Chr16:89337891..90155062 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.136C>T (p.Arg46Cys) single nucleotide variant not provided [RCV001894441] Chr16:89649467 [GRCh38]
Chr16:89715875 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.190C>T (p.Arg64Trp) single nucleotide variant Inborn genetic diseases [RCV002545405]|not provided [RCV002039674] Chr16:89649413 [GRCh38]
Chr16:89715821 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:88985997-89962916) copy number gain not specified [RCV002052564] Chr16:88985997..89962916 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3 copy number gain not provided [RCV001829158] Chr16:88000389..90155062 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
NM_002768.5(CHMP1A):c.106-10C>T single nucleotide variant not provided [RCV001943136] Chr16:89649507 [GRCh38]
Chr16:89715915 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NC_000016.9:g.(?_87636753)_(89723996_?)dup duplication Mucopolysaccharidosis, MPS-IV-A [RCV001939908] Chr16:87636753..89723996 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
NC_000016.9:g.(?_89712474)_(89720351_?)dup duplication not provided [RCV001918004] Chr16:89712474..89720351 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.19del (p.Gln7fs) deletion not provided [RCV001898414] Chr16:89653912 [GRCh38]
Chr16:89720320 [GRCh37]
Chr16:16q24.3
pathogenic
NM_002768.5(CHMP1A):c.154G>A (p.Ala52Thr) single nucleotide variant not provided [RCV002034034] Chr16:89649449 [GRCh38]
Chr16:89715857 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.497G>T (p.Ser166Ile) single nucleotide variant not provided [RCV001881266] Chr16:89646599 [GRCh38]
Chr16:89713007 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.382-9T>C single nucleotide variant not provided [RCV002167784] Chr16:89646723 [GRCh38]
Chr16:89713131 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.28-6G>A single nucleotide variant CHMP1A-related disorder [RCV003970894]|not provided [RCV002109824] Chr16:89651652 [GRCh38]
Chr16:89718060 [GRCh37]
Chr16:16q24.3
likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
NM_002768.5(CHMP1A):c.384G>A (p.Val128=) single nucleotide variant not provided [RCV002118554] Chr16:89646712 [GRCh38]
Chr16:89713120 [GRCh37]
Chr16:16q24.3
likely benign
NC_000016.9:g.(?_89167090)_(89883023_?)dup duplication KBG syndrome [RCV003116641] Chr16:89167090..89883023 [GRCh37]
Chr16:16q24.3
uncertain significance
NC_000016.9:g.(?_89334886)_(89723996_?)dup duplication not provided [RCV003113113] Chr16:89334886..89723996 [GRCh37]
Chr16:16q24.3
uncertain significance
NC_000016.9:g.(?_89371594)_(89730828_?)dup duplication KBG syndrome [RCV003116637] Chr16:89371594..89730828 [GRCh37]
Chr16:16q24.3
uncertain significance
NC_000016.9:g.(?_89712474)_(89866066_?)del deletion Fanconi anemia [RCV003119371] Chr16:89712474..89866066 [GRCh37]
Chr16:16q24.3
pathogenic
NC_000016.9:g.(?_89556653)_(89851392_?)dup duplication Fanconi anemia [RCV003119374] Chr16:89556653..89851392 [GRCh37]
Chr16:16q24.3
uncertain significance
NC_000016.9:g.(?_89611036)_(90106937_?)dup duplication Fanconi anemia [RCV003119385] Chr16:89611036..90106937 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.252+6T>C single nucleotide variant not specified [RCV004783202] Chr16:89649345 [GRCh38]
Chr16:89715753 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.432G>A (p.Glu144=) single nucleotide variant Inborn genetic diseases [RCV003276439] Chr16:89646664 [GRCh38]
Chr16:89713072 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.34del (p.Ala12fs) deletion Pontocerebellar hypoplasia type 8 [RCV004789841] Chr16:89651640 [GRCh38]
Chr16:89718048 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_002768.5(CHMP1A):c.28-2A>G single nucleotide variant Pontocerebellar hypoplasia type 8 [RCV003148450] Chr16:89651648 [GRCh38]
Chr16:89718056 [GRCh37]
Chr16:16q24.3
likely pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3
likely pathogenic
GRCh37/hg19 16q24.3(chr16:89662422-89895938)x1 copy number loss not provided [RCV002472747] Chr16:89662422..89895938 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.327C>G (p.Ser109=) single nucleotide variant Inborn genetic diseases [RCV002840314] Chr16:89647257 [GRCh38]
Chr16:89713665 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.175G>A (p.Gly59Ser) single nucleotide variant not provided [RCV003074158] Chr16:89649428 [GRCh38]
Chr16:89715836 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.569+20C>T single nucleotide variant not provided [RCV002616968] Chr16:89646507 [GRCh38]
Chr16:89712915 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.106-17T>C single nucleotide variant not provided [RCV002613460] Chr16:89649514 [GRCh38]
Chr16:89715922 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.587A>G (p.Asn196Ser) single nucleotide variant Inborn genetic diseases [RCV002752616] Chr16:89646070 [GRCh38]
Chr16:89712478 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.8-5T>C single nucleotide variant not provided [RCV002815382] Chr16:89653928 [GRCh38]
Chr16:89720336 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.378A>G (p.Thr126=) single nucleotide variant Inborn genetic diseases [RCV002905655]|not provided [RCV003561121] Chr16:89647206 [GRCh38]
Chr16:89713614 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.321G>A (p.Lys107=) single nucleotide variant Inborn genetic diseases [RCV002753979]|not provided [RCV003778629] Chr16:89647263 [GRCh38]
Chr16:89713671 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_002768.5(CHMP1A):c.253-14C>G single nucleotide variant not provided [RCV002740457] Chr16:89647345 [GRCh38]
Chr16:89713753 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.516C>T (p.Ala172=) single nucleotide variant not provided [RCV002639476] Chr16:89646580 [GRCh38]
Chr16:89712988 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.310G>A (p.Asp104Asn) single nucleotide variant Inborn genetic diseases [RCV002949802] Chr16:89647274 [GRCh38]
Chr16:89713682 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.262A>T (p.Asn88Tyr) single nucleotide variant Inborn genetic diseases [RCV002844511] Chr16:89647322 [GRCh38]
Chr16:89713730 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.370G>A (p.Val124Ile) single nucleotide variant not provided [RCV002639532] Chr16:89647214 [GRCh38]
Chr16:89713622 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.*10G>A single nucleotide variant Inborn genetic diseases [RCV002759925] Chr16:89646056 [GRCh38]
Chr16:89712464 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.570-17C>G single nucleotide variant not provided [RCV003021459] Chr16:89646104 [GRCh38]
Chr16:89712512 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.252+17_252+18insA insertion not provided [RCV003036696] Chr16:89649333..89649334 [GRCh38]
Chr16:89715741..89715742 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.111T>C (p.Leu37=) single nucleotide variant Inborn genetic diseases [RCV002978699] Chr16:89649492 [GRCh38]
Chr16:89715900 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.253-18C>T single nucleotide variant not provided [RCV002781302] Chr16:89647349 [GRCh38]
Chr16:89713757 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.297C>T (p.Ala99=) single nucleotide variant not provided [RCV003100452] Chr16:89647287 [GRCh38]
Chr16:89713695 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.404C>T (p.Ser135Leu) single nucleotide variant not provided [RCV002638364] Chr16:89646692 [GRCh38]
Chr16:89713100 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.106-12C>T single nucleotide variant not provided [RCV002573931] Chr16:89649509 [GRCh38]
Chr16:89715917 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.252+9T>G single nucleotide variant not provided [RCV002800871] Chr16:89649342 [GRCh38]
Chr16:89715750 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.489C>A (p.Asp163Glu) single nucleotide variant not provided [RCV002918167] Chr16:89646607 [GRCh38]
Chr16:89713015 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.32C>T (p.Thr11Met) single nucleotide variant Inborn genetic diseases [RCV002765282] Chr16:89651642 [GRCh38]
Chr16:89718050 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.462C>T (p.Ala154=) single nucleotide variant not provided [RCV002932218] Chr16:89646634 [GRCh38]
Chr16:89713042 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.423G>A (p.Thr141=) single nucleotide variant not provided [RCV003089603] Chr16:89646673 [GRCh38]
Chr16:89713081 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.488A>G (p.Asp163Gly) single nucleotide variant not provided [RCV002627525] Chr16:89646608 [GRCh38]
Chr16:89713016 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.105+8C>T single nucleotide variant not provided [RCV003086241] Chr16:89651561 [GRCh38]
Chr16:89717969 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.542G>A (p.Arg181His) single nucleotide variant not provided [RCV003087165] Chr16:89646554 [GRCh38]
Chr16:89712962 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.*9C>T single nucleotide variant Inborn genetic diseases [RCV002717665] Chr16:89646057 [GRCh38]
Chr16:89712465 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.522C>T (p.Ala174=) single nucleotide variant Inborn genetic diseases [RCV003294515]|not provided [RCV003088697] Chr16:89646574 [GRCh38]
Chr16:89712982 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.*109C>T single nucleotide variant Inborn genetic diseases [RCV002809485] Chr16:89645957 [GRCh38]
Chr16:89712365 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.28-11C>G single nucleotide variant not provided [RCV003045282] Chr16:89651657 [GRCh38]
Chr16:89718065 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.211G>A (p.Ala71Thr) single nucleotide variant not provided [RCV003047432] Chr16:89649392 [GRCh38]
Chr16:89715800 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.513C>T (p.Gly171=) single nucleotide variant not provided [RCV003045178] Chr16:89646583 [GRCh38]
Chr16:89712991 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.459C>T (p.Ile153=) single nucleotide variant Inborn genetic diseases [RCV004064439]|not provided [RCV002580041] Chr16:89646637 [GRCh38]
Chr16:89713045 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.514G>A (p.Ala172Thr) single nucleotide variant not provided [RCV002635761] Chr16:89646582 [GRCh38]
Chr16:89712990 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.577G>C (p.Ala193Pro) single nucleotide variant Inborn genetic diseases [RCV003205447] Chr16:89646080 [GRCh38]
Chr16:89712488 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.271C>T (p.Gln91Ter) single nucleotide variant Pontoneocerebellar hypoplasia [RCV003226733] Chr16:89647313 [GRCh38]
Chr16:89713721 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_002768.5(CHMP1A):c.*57C>T single nucleotide variant Inborn genetic diseases [RCV003263067] Chr16:89646009 [GRCh38]
Chr16:89712417 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.252+937G>A single nucleotide variant not provided [RCV003419531] Chr16:89648414 [GRCh38]
Chr16:89714822 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.51G>C (p.Lys17Asn) single nucleotide variant Inborn genetic diseases [RCV003383715] Chr16:89651623 [GRCh38]
Chr16:89718031 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.380C>T (p.Ser127Leu) single nucleotide variant Inborn genetic diseases [RCV003351159] Chr16:89647204 [GRCh38]
Chr16:89713612 [GRCh37]
Chr16:16q24.3
likely benign
GRCh37/hg19 16q24.3(chr16:89563707-89772750)x3 copy number gain not provided [RCV003485132] Chr16:89563707..89772750 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.160C>T (p.Arg54Cys) single nucleotide variant Inborn genetic diseases [RCV004364826]|not specified [RCV003479590] Chr16:89649443 [GRCh38]
Chr16:89715851 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.*68C>G single nucleotide variant CHMP1A-related disorder [RCV003946554]|not provided [RCV003428007] Chr16:89645998 [GRCh38]
Chr16:89712406 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.202C>T (p.Arg68Cys) single nucleotide variant not specified [RCV003388488] Chr16:89649401 [GRCh38]
Chr16:89715809 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.252+923T>G single nucleotide variant not provided [RCV003428010] Chr16:89648428 [GRCh38]
Chr16:89714836 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.253-222G>A single nucleotide variant not provided [RCV003413058] Chr16:89647553 [GRCh38]
Chr16:89713961 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.106-11G>A single nucleotide variant not provided [RCV003413059] Chr16:89649508 [GRCh38]
Chr16:89715916 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.252+965T>G single nucleotide variant not provided [RCV003419530] Chr16:89648386 [GRCh38]
Chr16:89714794 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.253-249G>A single nucleotide variant not provided [RCV003428008] Chr16:89647580 [GRCh38]
Chr16:89713988 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.253-327G>A single nucleotide variant not provided [RCV003428009] Chr16:89647658 [GRCh38]
Chr16:89714066 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.345C>T (p.Phe115=) single nucleotide variant not provided [RCV003825552] Chr16:89647239 [GRCh38]
Chr16:89713647 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.286C>T (p.Leu96=) single nucleotide variant not provided [RCV003829945] Chr16:89647298 [GRCh38]
Chr16:89713706 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.285C>T (p.Ala95=) single nucleotide variant not provided [RCV003811214] Chr16:89647299 [GRCh38]
Chr16:89713707 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.381+17C>T single nucleotide variant not provided [RCV003665436] Chr16:89647186 [GRCh38]
Chr16:89713594 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.426G>A (p.Pro142=) single nucleotide variant not provided [RCV003813728] Chr16:89646670 [GRCh38]
Chr16:89713078 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.123T>C (p.Asn41=) single nucleotide variant not provided [RCV003671001] Chr16:89649480 [GRCh38]
Chr16:89715888 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.303C>T (p.Ser101=) single nucleotide variant not provided [RCV003679866] Chr16:89647281 [GRCh38]
Chr16:89713689 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.84G>A (p.Ala28=) single nucleotide variant not provided [RCV003542529] Chr16:89651590 [GRCh38]
Chr16:89717998 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.105+10T>G single nucleotide variant not provided [RCV003731851] Chr16:89651559 [GRCh38]
Chr16:89717967 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.219C>A (p.Ala73=) single nucleotide variant not provided [RCV003856950] Chr16:89649384 [GRCh38]
Chr16:89715792 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.106-12del deletion not provided [RCV003719152] Chr16:89649509 [GRCh38]
Chr16:89715917 [GRCh37]
Chr16:16q24.3
benign
NM_002768.5(CHMP1A):c.528C>T (p.Gly176=) single nucleotide variant not provided [RCV003867058] Chr16:89646568 [GRCh38]
Chr16:89712976 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.382-6C>T single nucleotide variant not provided [RCV003720083] Chr16:89646720 [GRCh38]
Chr16:89713128 [GRCh37]
Chr16:16q24.3
likely benign
GRCh37/hg19 16q24.3(chr16:89462287-89772750)x3 copy number gain not specified [RCV003987127] Chr16:89462287..89772750 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89692538-89740609)x1 copy number loss not specified [RCV003987197] Chr16:89692538..89740609 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.333G>A (p.Val111=) single nucleotide variant not provided [RCV003734941] Chr16:89647251 [GRCh38]
Chr16:89713659 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.191G>A (p.Arg64Gln) single nucleotide variant not provided [RCV003847052] Chr16:89649412 [GRCh38]
Chr16:89715820 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.241A>T (p.Thr81Ser) single nucleotide variant Inborn genetic diseases [RCV004439297] Chr16:89649362 [GRCh38]
Chr16:89715770 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.366G>A (p.Leu122=) single nucleotide variant Inborn genetic diseases [RCV004439300] Chr16:89647218 [GRCh38]
Chr16:89713626 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.558G>A (p.Gln186=) single nucleotide variant Inborn genetic diseases [RCV004439302] Chr16:89646538 [GRCh38]
Chr16:89712946 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.304A>G (p.Thr102Ala) single nucleotide variant Inborn genetic diseases [RCV004439299] Chr16:89647280 [GRCh38]
Chr16:89713688 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.*6C>A single nucleotide variant Inborn genetic diseases [RCV004610381] Chr16:89646060 [GRCh38]
Chr16:89712468 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.150G>A (p.Glu50=) single nucleotide variant Inborn genetic diseases [RCV004610382] Chr16:89649453 [GRCh38]
Chr16:89715861 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.153C>T (p.Asn51=) single nucleotide variant Inborn genetic diseases [RCV004439293] Chr16:89649450 [GRCh38]
Chr16:89715858 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.260A>T (p.Lys87Met) single nucleotide variant Inborn genetic diseases [RCV004439298] Chr16:89647324 [GRCh38]
Chr16:89713732 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.*34G>T single nucleotide variant Inborn genetic diseases [RCV004439304] Chr16:89646032 [GRCh38]
Chr16:89712440 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.*121G>C single nucleotide variant CHMP1A-related disorder [RCV003916844] Chr16:89645945 [GRCh38]
Chr16:89712353 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.201C>T (p.Ser67=) single nucleotide variant Inborn genetic diseases [RCV004439295] Chr16:89649402 [GRCh38]
Chr16:89715810 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.161G>A (p.Arg54His) single nucleotide variant Inborn genetic diseases [RCV004439294] Chr16:89649442 [GRCh38]
Chr16:89715850 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.203G>A (p.Arg68His) single nucleotide variant Inborn genetic diseases [RCV004439296] Chr16:89649400 [GRCh38]
Chr16:89715808 [GRCh37]
Chr16:16q24.3
likely benign
NM_002768.5(CHMP1A):c.65C>T (p.Ala22Val) single nucleotide variant Pontocerebellar hypoplasia type 8 [RCV003990825] Chr16:89651609 [GRCh38]
Chr16:89718017 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3 copy number gain not provided [RCV004577473] Chr16:82865402..90163542 [GRCh37]
Chr16:16q23.3-24.3
pathogenic
NC_000016.9:g.(?_88717344)_(90106937_?)dup duplication KBG syndrome [RCV004581568] Chr16:88717344..90106937 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_002768.5(CHMP1A):c.381+6T>A single nucleotide variant not specified [RCV004691080] Chr16:89647197 [GRCh38]
Chr16:89713605 [GRCh37]
Chr16:16q24.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5860
Count of miRNA genes:1038
Interacting mature miRNAs:1314
Transcripts:ENST00000253475, ENST00000397901, ENST00000535997, ENST00000547614, ENST00000547687, ENST00000548650, ENST00000549139, ENST00000549328, ENST00000550102, ENST00000550872, ENST00000551981
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
597110039GWAS1206113_HCalcium channel blocker use measurement QTL GWAS1206113 (human)8e-17Calcium channel blocker use measurement168964648189646482Human
597152982GWAS1249056_Hhair color QTL GWAS1249056 (human)2e-75hair color168965008589650086Human
596970518GWAS1090037_Hpulse pressure measurement QTL GWAS1090037 (human)2e-11pulse pressure measurementpulse pressure (CMO:0000292)168964845689648457Human
597284253GWAS1380327_Hcalcium measurement QTL GWAS1380327 (human)4e-16calcium measurementblood calcium level (CMO:0000502)168965354789653548Human
597490905GWAS1586979_Hcigarettes per day measurement QTL GWAS1586979 (human)3e-15cigarettes per day measurement168964676689646767Human
597365661GWAS1461735_Hdiastolic blood pressure QTL GWAS1461735 (human)7e-12diastolic blood pressurediastolic blood pressure (CMO:0000005)168964761489647615Human
596971283GWAS1090802_Hdiastolic blood pressure QTL GWAS1090802 (human)3e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)168965137389651374Human
597487252GWAS1583326_Hpulse pressure measurement QTL GWAS1583326 (human)1e-11pulse pressure measurementpulse pressure (CMO:0000292)168964845689648457Human
596971294GWAS1090813_Hsystolic blood pressure QTL GWAS1090813 (human)6e-10systolic blood pressuresystolic blood pressure (CMO:0000004)168964845689648457Human
597365776GWAS1461850_Hhair color QTL GWAS1461850 (human)7e-50hair color168964940589649406Human
597371221GWAS1467295_HBMI-adjusted waist circumference QTL GWAS1467295 (human)2e-17body size trait (VT:0100005)168964857389648574Human
597151065GWAS1247139_Hhair color QTL GWAS1247139 (human)3e-08hair color168964981489649815Human
596971077GWAS1090596_Hsystolic blood pressure QTL GWAS1090596 (human)1e-09systolic blood pressuresystolic blood pressure (CMO:0000004)168964845689648457Human
597414984GWAS1511058_Hsuntan QTL GWAS1511058 (human)1e-129suntan168964753089647531Human
597487817GWAS1583891_Hpulse pressure measurement QTL GWAS1583891 (human)2e-11pulse pressure measurementpulse pressure (CMO:0000292)168964845689648457Human
597404224GWAS1500298_Hsunburn QTL GWAS1500298 (human)1e-144sunburn168964753089647531Human
597399175GWAS1495249_HAgents acting on the renin-angiotensin system use measurement QTL GWAS1495249 (human)6e-15Agents acting on the renin-angiotensin system use measurement168964924089649241Human
597287429GWAS1383503_Hcreatinine measurement QTL GWAS1383503 (human)3e-10creatinine measurementblood creatinine measurement (CMO:0000767)168965047589650476Human
597230599GWAS1326673_Hbasal cell carcinoma QTL GWAS1326673 (human)2e-67basal cell carcinoma168965008589650086Human
597516605GWAS1612679_Hcigarettes per day measurement QTL GWAS1612679 (human)1e-13cigarettes per day measurement168964676689646767Human
597406715GWAS1502789_Hsystolic blood pressure QTL GWAS1502789 (human)6e-10systolic blood pressuresystolic blood pressure (CMO:0000004)168964845689648457Human
597522111GWAS1618185_Hbasal cell carcinoma QTL GWAS1618185 (human)8e-11basal cell carcinoma168964843689648437Human
597458687GWAS1554761_Hphysical activity measurement QTL GWAS1554761 (human)3e-08physical activity measurementvoluntary body movement measurement (CMO:0000954)168964843689648437Human
597406707GWAS1502781_Hsystolic blood pressure QTL GWAS1502781 (human)1e-09systolic blood pressuresystolic blood pressure (CMO:0000004)168964845689648457Human
597493108GWAS1589182_Hosteoarthritis QTL GWAS1589182 (human)0.000003osteoarthritis168964887489648875Human
597494769GWAS1590843_HAntihypertensive use measurement QTL GWAS1590843 (human)3e-14Antihypertensive use measurement168964676689646767Human
597468208GWAS1564282_Hcreatinine measurement, glomerular filtration rate QTL GWAS1564282 (human)0.0000003creatinine measurement, glomerular filtration rateglomerular filtration rate (CMO:0000490)168964756189647562Human
597369527GWAS1465601_Hwhite matter microstructure measurement QTL GWAS1465601 (human)4e-08white matter microstructure measurement168964874789648748Human
597145594GWAS1241668_Hcancer QTL GWAS1241668 (human)7e-09cancer168965008589650086Human
597194857GWAS1290931_Hnicotine dependence QTL GWAS1290931 (human)3e-08nicotine dependence168964471289644713Human
597398762GWAS1494836_HDiuretic use measurement QTL GWAS1494836 (human)8e-10Diuretic use measurement168964924089649241Human
597311848GWAS1407922_HCalcium channel blocker use measurement QTL GWAS1407922 (human)2e-16Calcium channel blocker use measurement168965098989650990Human
407102576GWAS751552_Hmean corpuscular hemoglobin QTL GWAS751552 (human)7e-19mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)168964981489649815Human
596955745GWAS1075264_Hphysical activity measurement QTL GWAS1075264 (human)3e-08physical activity measurementvoluntary body movement measurement (CMO:0000954)168964843689648437Human
597586274GWAS1643134_Hcreatinine measurement QTL GWAS1643134 (human)2e-15creatinine measurementblood creatinine measurement (CMO:0000767)168964471289644713Human
597518049GWAS1614123_Hable to hear with hearing aids QTL GWAS1614123 (human)9e-08able to hear with hearing aids168964681589646817Human
596970793GWAS1090312_Hpulse pressure measurement QTL GWAS1090312 (human)1e-11pulse pressure measurementpulse pressure (CMO:0000292)168964845689648457Human
597528864GWAS1624938_Hpicolinate measurement QTL GWAS1624938 (human)2e-14picolinate measurement168964676689646767Human
597287462GWAS1383536_Hdiastolic blood pressure QTL GWAS1383536 (human)3e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)168965137389651374Human

Markers in Region
RH17441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371689,711,057 - 89,711,198UniSTSGRCh37
Build 361688,238,558 - 88,238,699RGDNCBI36
Celera1674,775,549 - 74,775,690RGD
Cytogenetic Map16q24.3UniSTS
HuRef1675,406,426 - 75,406,567UniSTS
GeneMap99-GB4 RH Map16499.87UniSTS
NCBI RH Map16689.2UniSTS
SHGC-61043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371689,711,381 - 89,711,558UniSTSGRCh37
Build 361688,238,882 - 88,239,059RGDNCBI36
Celera1674,775,873 - 74,776,050RGD
Cytogenetic Map16q24.3UniSTS
HuRef1675,406,750 - 75,406,927UniSTS
GeneMap99-GB4 RH Map16490.14UniSTS
RH66573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371689,710,883 - 89,711,008UniSTSGRCh37
Build 361688,238,384 - 88,238,509RGDNCBI36
Celera1674,775,375 - 74,775,500RGD
Cytogenetic Map16q24.3UniSTS
HuRef1675,406,252 - 75,406,377UniSTS
GeneMap99-GB4 RH Map16499.87UniSTS
NCBI RH Map16689.2UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001083314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF281063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI356110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI362697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG480548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI826757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX363674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF131483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D38554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY008690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY089525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000397901   ⟹   ENSP00000380998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,435 - 89,657,708 (-)Ensembl
Ensembl Acc Id: ENST00000535997   ⟹   ENSP00000442120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,471 - 89,657,713 (-)Ensembl
Ensembl Acc Id: ENST00000547614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,647,044 - 89,657,721 (-)Ensembl
Ensembl Acc Id: ENST00000547687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,435 - 89,647,843 (-)Ensembl
Ensembl Acc Id: ENST00000548650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,646,955 - 89,649,539 (-)Ensembl
Ensembl Acc Id: ENST00000549139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,645,836 - 89,649,593 (-)Ensembl
Ensembl Acc Id: ENST00000549328   ⟹   ENSP00000447899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,503 - 89,657,721 (-)Ensembl
Ensembl Acc Id: ENST00000550102   ⟹   ENSP00000449243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,645,889 - 89,657,650 (-)Ensembl
Ensembl Acc Id: ENST00000550872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,649,179 - 89,657,697 (-)Ensembl
Ensembl Acc Id: ENST00000551981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,435 - 89,657,675 (-)Ensembl
Ensembl Acc Id: ENST00000674799   ⟹   ENSP00000502267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,479 - 89,657,725 (-)Ensembl
Ensembl Acc Id: ENST00000675016   ⟹   ENSP00000502282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,435 - 89,657,708 (-)Ensembl
Ensembl Acc Id: ENST00000675076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,645,121 - 89,651,669 (-)Ensembl
Ensembl Acc Id: ENST00000675161   ⟹   ENSP00000501615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,435 - 89,657,708 (-)Ensembl
Ensembl Acc Id: ENST00000675309   ⟹   ENSP00000502291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,435 - 89,657,664 (-)Ensembl
Ensembl Acc Id: ENST00000675536   ⟹   ENSP00000501759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,483 - 89,657,659 (-)Ensembl
Ensembl Acc Id: ENST00000675760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,435 - 89,645,504 (-)Ensembl
Ensembl Acc Id: ENST00000675778   ⟹   ENSP00000502825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,770 - 89,657,693 (-)Ensembl
Ensembl Acc Id: ENST00000675909   ⟹   ENSP00000502022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,237 - 89,657,738 (-)Ensembl
Ensembl Acc Id: ENST00000675942   ⟹   ENSP00000502409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,649,443 - 89,657,708 (-)Ensembl
Ensembl Acc Id: ENST00000675952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,452 - 89,654,613 (-)Ensembl
Ensembl Acc Id: ENST00000676118   ⟹   ENSP00000501619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,837 - 89,657,607 (-)Ensembl
Ensembl Acc Id: ENST00000676275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,640,816 - 89,645,793 (-)Ensembl
Ensembl Acc Id: ENST00000676342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,456 - 89,649,041 (-)Ensembl
Ensembl Acc Id: ENST00000676355   ⟹   ENSP00000502147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,435 - 89,657,708 (-)Ensembl
Ensembl Acc Id: ENST00000676402   ⟹   ENSP00000501794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,644,435 - 89,657,708 (-)Ensembl
RefSeq Acc Id: NM_001083314   ⟹   NP_001076783
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,644,435 - 89,657,708 (-)NCBI
GRCh371689,710,839 - 89,724,193 (-)NCBI
Build 361688,238,344 - 88,251,630 (-)NCBI Archive
HuRef1675,406,208 - 75,419,708 (-)NCBI
CHM1_11691,122,139 - 91,134,975 (-)NCBI
T2T-CHM13v2.01695,728,224 - 95,742,519 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002768   ⟹   NP_002759
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,644,435 - 89,657,708 (-)NCBI
GRCh371689,710,839 - 89,724,193 (-)NCBI
Build 361688,238,344 - 88,251,630 (-)NCBI Archive
HuRef1675,406,208 - 75,419,708 (-)NCBI
CHM1_11691,122,139 - 91,134,975 (-)NCBI
T2T-CHM13v2.01695,728,224 - 95,742,519 (-)NCBI
Sequence:
RefSeq Acc Id: NR_046418
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,644,435 - 89,657,708 (-)NCBI
GRCh371689,710,839 - 89,724,193 (-)NCBI
HuRef1675,406,208 - 75,419,708 (-)NCBI
CHM1_11691,122,139 - 91,134,975 (-)NCBI
T2T-CHM13v2.01695,728,224 - 95,742,519 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523098   ⟹   XP_011521400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,647,338 - 89,657,708 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047434195   ⟹   XP_047290151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,644,435 - 89,654,604 (-)NCBI
RefSeq Acc Id: XM_054380435   ⟹   XP_054236410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01695,731,137 - 95,742,519 (-)NCBI
RefSeq Acc Id: XM_054380436   ⟹   XP_054236411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01695,728,224 - 95,739,417 (-)NCBI
RefSeq Acc Id: NP_001076783   ⟸   NM_001083314
- Peptide Label: isoform 1
- UniProtKB: A0A6Q8PFF8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002759   ⟸   NM_002768
- Peptide Label: isoform 2
- UniProtKB: Q9HD42 (UniProtKB/Swiss-Prot),   Q15779 (UniProtKB/Swiss-Prot),   Q14468 (UniProtKB/Swiss-Prot),   A2RU09 (UniProtKB/Swiss-Prot),   Q96G31 (UniProtKB/Swiss-Prot),   A0A6Q8PG85 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521400   ⟸   XM_011523098
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000442120   ⟸   ENST00000535997
Ensembl Acc Id: ENSP00000447899   ⟸   ENST00000549328
Ensembl Acc Id: ENSP00000449243   ⟸   ENST00000550102
Ensembl Acc Id: ENSP00000380998   ⟸   ENST00000397901
Ensembl Acc Id: ENSP00000502267   ⟸   ENST00000674799
Ensembl Acc Id: ENSP00000502825   ⟸   ENST00000675778
Ensembl Acc Id: ENSP00000501759   ⟸   ENST00000675536
Ensembl Acc Id: ENSP00000502409   ⟸   ENST00000675942
Ensembl Acc Id: ENSP00000502022   ⟸   ENST00000675909
Ensembl Acc Id: ENSP00000502291   ⟸   ENST00000675309
Ensembl Acc Id: ENSP00000501615   ⟸   ENST00000675161
Ensembl Acc Id: ENSP00000502282   ⟸   ENST00000675016
Ensembl Acc Id: ENSP00000501619   ⟸   ENST00000676118
Ensembl Acc Id: ENSP00000501794   ⟸   ENST00000676402
Ensembl Acc Id: ENSP00000502147   ⟸   ENST00000676355
RefSeq Acc Id: XP_047290151   ⟸   XM_047434195
- Peptide Label: isoform X2
- UniProtKB: A0A6Q8PFX8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054236411   ⟸   XM_054380436
- Peptide Label: isoform X2
- UniProtKB: A0A6Q8PFX8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054236410   ⟸   XM_054380435
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HD42-F1-model_v2 AlphaFold Q9HD42 1-196 view protein structure

Promoters
RGD ID:6792908
Promoter ID:HG_KWN:24528
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_001083314,   NM_002768,   OTTHUMT00000269924,   UC002FNX.2,   UC002FNY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361688,251,511 - 88,252,112 (-)MPROMDB
RGD ID:7233173
Promoter ID:EPDNEW_H22332
Type:multiple initiation site
Name:CHMP1A_2
Description:charged multivesicular body protein 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22333  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,646,887 - 89,646,947EPDNEW
RGD ID:7233175
Promoter ID:EPDNEW_H22333
Type:initiation region
Name:CHMP1A_1
Description:charged multivesicular body protein 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22332  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,657,696 - 89,657,756EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8740 AgrOrtholog
COSMIC CHMP1A COSMIC
Ensembl Genes ENSG00000131165 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000397901 ENTREZGENE
  ENST00000397901.8 UniProtKB/Swiss-Prot
  ENST00000535997 ENTREZGENE
  ENST00000535997.7 UniProtKB/TrEMBL
  ENST00000549328 ENTREZGENE
  ENST00000549328.2 UniProtKB/TrEMBL
  ENST00000550102.5 UniProtKB/TrEMBL
  ENST00000674799 ENTREZGENE
  ENST00000674799.1 UniProtKB/TrEMBL
  ENST00000675016.1 UniProtKB/TrEMBL
  ENST00000675161.1 UniProtKB/TrEMBL
  ENST00000675309.1 UniProtKB/TrEMBL
  ENST00000675536.1 UniProtKB/TrEMBL
  ENST00000675778.1 UniProtKB/TrEMBL
  ENST00000675909.1 UniProtKB/TrEMBL
  ENST00000675942.1 UniProtKB/TrEMBL
  ENST00000676118.1 UniProtKB/TrEMBL
  ENST00000676355.1 UniProtKB/TrEMBL
  ENST00000676402 ENTREZGENE
  ENST00000676402.1 UniProtKB/TrEMBL
Gene3D-CATH 6.10.140.1230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.440 UniProtKB/TrEMBL
GTEx ENSG00000131165 GTEx
HGNC ID HGNC:8740 ENTREZGENE
Human Proteome Map CHMP1A Human Proteome Map
InterPro Snf7_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5119 UniProtKB/Swiss-Prot
NCBI Gene 5119 ENTREZGENE
OMIM 164010 OMIM
PANTHER PTHR10476 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Snf7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33085 PharmGKB
PRINTS PRICHEXTENSN UniProtKB/TrEMBL
UniProt A0A6Q8PF26_HUMAN UniProtKB/TrEMBL
  A0A6Q8PF35_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFF8 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PFF9_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFX8 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PG85 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PGI9_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGM8_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGV2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHU0_HUMAN UniProtKB/TrEMBL
  A2RU09 ENTREZGENE
  CHM1A_HUMAN UniProtKB/Swiss-Prot
  F5H875_HUMAN UniProtKB/TrEMBL
  F8VUA2_HUMAN UniProtKB/TrEMBL
  F8VVT7_HUMAN UniProtKB/TrEMBL
  Q14468 ENTREZGENE
  Q15779 ENTREZGENE
  Q96G31 ENTREZGENE
  Q9HD42 ENTREZGENE
UniProt Secondary A2RU09 UniProtKB/Swiss-Prot
  Q14468 UniProtKB/Swiss-Prot
  Q15779 UniProtKB/Swiss-Prot
  Q96G31 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-11-22 CHMP1A  charged multivesicular body protein 1A  CHMP1A  chromatin modifying protein 1A  Symbol and/or name change 5135510 APPROVED