PRMT7 (protein arginine methyltransferase 7) - Rat Genome Database

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Gene: PRMT7 (protein arginine methyltransferase 7) Homo sapiens
Analyze
Symbol: PRMT7
Name: protein arginine methyltransferase 7
RGD ID: 1601867
HGNC Page HGNC:25557
Description: Enables histone binding activity; protein methyltransferase activity; and ribonucleoprotein complex binding activity. Involved in peptidyl-arginine methylation and spliceosomal snRNP assembly. Located in cytosol; fibrillar center; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: [Myelin basic protein]-arginine N-methyltransferase PRMT7; FLJ10640; histone-arginine N-methyltransferase PRMT7; KIAA1933; myelin basic protein-arginine N-methyltransferase; protein arginine N-methyltransferase 7; SBIDDS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh381668,311,019 - 68,360,870 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1668,310,951 - 68,360,852 (+)EnsemblGRCh38hg38GRCh38
GRCh371668,344,922 - 68,392,487 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,902,446 - 66,948,663 (+)NCBINCBI36Build 36hg18NCBI36
Celera1652,853,382 - 52,899,696 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1654,218,054 - 54,264,367 (+)NCBIHuRef
CHM1_11669,752,898 - 69,799,208 (+)NCBICHM1_1
T2T-CHM13v2.01674,106,797 - 74,156,712 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IDA,IEA)
fibrillar center  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brain morphology  (IAGP)
Abnormal conus terminalis morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the endocrine system  (IAGP)
Abnormality of the skeletal system  (IAGP)
Acanthosis nigricans  (IAGP)
Anteverted nares  (IAGP)
Astigmatism  (IAGP)
Atonic seizure  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blue sclerae  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad nasal tip  (IAGP)
Coloboma  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Cubitus valgus  (IAGP)
Dacryocystitis  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to walk  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Eczematoid dermatitis  (IAGP)
Epicanthus  (IAGP)
Epileptic encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Flat face  (IAGP)
Focal-onset seizure  (IAGP)
Frontal bossing  (IAGP)
Frontal hirsutism  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized myoclonic seizure  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Hepatic steatosis  (IAGP)
High palate  (IAGP)
Hyperlipidemia  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Immunodeficiency  (IAGP)
Infantile muscular hypotonia  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Laryngomalacia  (IAGP)
Long philtrum  (IAGP)
Lumbar hyperlordosis  (IAGP)
Malar flattening  (IAGP)
Microcephaly  (IAGP)
Narrow naris  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Obesity  (IAGP)
Optic disc coloboma  (IAGP)
Patellar hypoplasia  (IAGP)
Polyhydramnios  (IAGP)
Preauricular skin tag  (IAGP)
Prominent forehead  (IAGP)
Pseudohypoparathyroidism  (IAGP)
Ptosis  (IAGP)
Rectal prolapse  (IAGP)
Recurrent urinary tract infections  (IAGP)
Redundant neck skin  (IAGP)
Renal hypoplasia  (IAGP)
Retrognathia  (IAGP)
Sacral dimple  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Short attention span  (IAGP)
Short distal phalanx of finger  (IAGP)
Short fourth metatarsal  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Sleep apnea  (IAGP)
Soft skin  (IAGP)
Sparse hair  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Tethered cord  (IAGP)
Thick corpus callosum  (IAGP)
Thin vermilion border  (IAGP)
Typical absence seizure  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Histone arginine methylation. Di Lorenzo A and Bedford MT, FEBS Lett. 2011 Jul 7;585(13):2024-31. doi: 10.1016/j.febslet.2010.11.010. Epub 2010 Nov 11.
2. Readers of histone methylarginine marks. Gayatri S and Bedford MT, Biochim Biophys Acta. 2014 Aug;1839(8):702-710. doi: 10.1016/j.bbagrm.2014.02.015. Epub 2014 Feb 28.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11572484   PMID:12477932   PMID:14702039   PMID:15044439   PMID:15489334   PMID:15494416   PMID:16051612   PMID:16344560   PMID:16712791   PMID:17048991   PMID:17709427   PMID:18992153  
PMID:19110445   PMID:20562859   PMID:20700443   PMID:21044950   PMID:21873635   PMID:22179613   PMID:22231400   PMID:22241471   PMID:22761421   PMID:23455924   PMID:25136067   PMID:25294873  
PMID:25605249   PMID:25893041   PMID:26186194   PMID:26344197   PMID:26437029   PMID:26496610   PMID:26864203   PMID:27718516   PMID:28188177   PMID:28514442   PMID:28587924   PMID:28874563  
PMID:28902392   PMID:29568061   PMID:30513135   PMID:30699057   PMID:31519766   PMID:31926310   PMID:32296183   PMID:32409666   PMID:32807901   PMID:33782401   PMID:33916271   PMID:33961781  
PMID:34041522   PMID:34079125   PMID:34171297   PMID:35264579   PMID:35288557   PMID:36215168   PMID:36348013   PMID:36399134   PMID:36629882   PMID:37216364   PMID:37774976   PMID:37827155  
PMID:37848033   PMID:38496616   PMID:38803224   PMID:38943005  


Genomics

Comparative Map Data
PRMT7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381668,311,019 - 68,360,870 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1668,310,951 - 68,360,852 (+)EnsemblGRCh38hg38GRCh38
GRCh371668,344,922 - 68,392,487 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,902,446 - 66,948,663 (+)NCBINCBI36Build 36hg18NCBI36
Celera1652,853,382 - 52,899,696 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1654,218,054 - 54,264,367 (+)NCBIHuRef
CHM1_11669,752,898 - 69,799,208 (+)NCBICHM1_1
T2T-CHM13v2.01674,106,797 - 74,156,712 (+)NCBIT2T-CHM13v2.0
Prmt7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398106,937,686 - 106,978,326 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8106,937,568 - 106,979,426 (+)EnsemblGRCm39 Ensembl
GRCm388106,211,054 - 106,251,694 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8106,210,936 - 106,252,794 (+)EnsemblGRCm38mm10GRCm38
MGSCv378108,734,954 - 108,775,594 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368109,100,183 - 109,140,823 (+)NCBIMGSCv36mm8
Celera8110,438,956 - 110,479,594 (+)NCBICelera
Cytogenetic Map8D3NCBI
cM Map853.11NCBI
Prmt7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81951,020,596 - 51,071,401 (+)NCBIGRCr8
mRatBN7.21934,110,724 - 34,161,531 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1934,110,747 - 34,162,577 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1940,926,293 - 40,977,095 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01941,579,606 - 41,630,406 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01943,878,750 - 43,929,555 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01938,189,605 - 38,237,155 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1938,189,605 - 38,237,308 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01949,056,853 - 49,106,848 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41936,059,837 - 36,111,356 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1933,537,809 - 33,588,606 (+)NCBICelera
Cytogenetic Map19q12NCBI
Prmt7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554848,299,427 - 8,340,287 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554848,299,427 - 8,352,465 (-)NCBIChiLan1.0ChiLan1.0
PRMT7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21877,857,666 - 77,907,562 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11683,769,000 - 83,816,603 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01648,687,324 - 48,734,883 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11668,081,700 - 68,131,907 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1668,086,620 - 68,127,953 (+)Ensemblpanpan1.1panPan2
PRMT7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1581,172,085 - 81,216,708 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl581,173,147 - 81,216,669 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha581,163,601 - 81,207,468 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0581,608,170 - 81,652,304 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl581,607,111 - 81,651,584 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1581,434,966 - 81,479,057 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0581,117,903 - 81,161,718 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0581,758,874 - 81,802,993 (-)NCBIUU_Cfam_GSD_1.0
Prmt7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934940,921,588 - 40,967,897 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647518,632,052 - 18,672,247 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647518,632,022 - 18,667,515 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRMT7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl628,883,646 - 28,945,905 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1628,883,148 - 28,945,904 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2626,106,538 - 26,116,937 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRMT7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1559,058,827 - 59,106,177 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl559,058,846 - 59,106,106 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604721,793,153 - 21,841,919 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prmt7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474617,948,085 - 18,001,259 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474617,949,443 - 18,017,344 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRMT7
232 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1		 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 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1		 pathogenic
NM_018667.3(SMPD3):c.1955A>T (p.Glu652Val) single nucleotide variant Malignant melanoma [RCV000063081] Chr16:68361219 [GRCh38]
Chr16:68395122 [GRCh37]
Chr16:66952623 [NCBI36]
Chr16:16q22.1		 not provided
NM_019023.5(PRMT7):c.1276-1G>A single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV000256479] Chr16:68347630 [GRCh38]
Chr16:68381533 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.1480T>C (p.Trp494Arg) single nucleotide variant Inborn genetic diseases [RCV001266541]|Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV000256434]|not provided [RCV001855017] Chr16:68352314 [GRCh38]
Chr16:68386217 [GRCh37]
Chr16:16q22.1		 pathogenic|likely pathogenic|uncertain significance
NM_019023.5(PRMT7):c.1056-1G>T single nucleotide variant Neurodevelopmental abnormality [RCV001264712]|PRMT7-related disorder [RCV004754369]|Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV000256436]|not provided [RCV001551441] Chr16:68346144 [GRCh38]
Chr16:68380047 [GRCh37]
Chr16:16q22.1		 pathogenic|likely pathogenic
NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV000256464] Chr16:68316074 [GRCh38]
Chr16:68349977 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV000256485] Chr16:68346248 [GRCh38]
Chr16:68380151 [GRCh37]
Chr16:16q22.1		 pathogenic|likely pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
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 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
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3		 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 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
NM_019023.5(PRMT7):c.1718G>A (p.Ser573Asn) single nucleotide variant not provided [RCV000513962] Chr16:68355790 [GRCh38]
Chr16:68389693 [GRCh37]
Chr16:16q22.1		 benign|likely benign
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
NC_000016.9:g.68345747_68361056del deletion Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV000490247] Chr16:68345747..68361056 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.751G>A (p.Asp251Asn) single nucleotide variant not provided [RCV003321110] Chr16:68339792 [GRCh38]
Chr16:68373695 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.213TGGCAC[3] (p.Gly76_Leu77insThrGly) microsatellite not provided [RCV003321171] Chr16:68324762..68324763 [GRCh38]
Chr16:68358665..68358666 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) single nucleotide variant Acanthosis nigricans [RCV000626797]|not provided [RCV004721496] Chr16:68355785 [GRCh38]
Chr16:68389688 [GRCh37]
Chr16:16q22.1		 pathogenic|likely pathogenic
NM_019023.5(PRMT7):c.454G>A (p.Gly152Arg) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001170005] Chr16:68337521 [GRCh38]
Chr16:68371424 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1 copy number loss See cases [RCV000449234] Chr16:67654566..68404073 [GRCh37]
Chr16:16q22.1		 likely pathogenic
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
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
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
NM_019023.5(PRMT7):c.1999A>C (p.Thr667Pro) single nucleotide variant Inborn genetic diseases [RCV003254030] Chr16:68357144 [GRCh38]
Chr16:68391047 [GRCh37]
Chr16:16q22.1		 uncertain significance
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
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) single nucleotide variant Acanthosis nigricans [RCV000626798]|Inborn genetic diseases [RCV002533154]|Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV000763383]|not provided [RCV000806107] Chr16:68329105 [GRCh38]
Chr16:68363008 [GRCh37]
Chr16:16q22.1		 pathogenic|likely 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
NM_019023.5(PRMT7):c.2033C>G (p.Thr678Arg) single nucleotide variant Inborn genetic diseases [RCV003266249] Chr16:68357178 [GRCh38]
Chr16:68391081 [GRCh37]
Chr16:16q22.1		 uncertain significance
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_019023.5(PRMT7):c.1239_1246dup (p.Val416fs) duplication Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV000681525]|not provided [RCV004721492] Chr16:68347257..68347258 [GRCh38]
Chr16:68381160..68381161 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.431_432del (p.Glu144fs) microsatellite Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV000681524] Chr16:68337496..68337497 [GRCh38]
Chr16:68371399..68371400 [GRCh37]
Chr16:16q22.1		 pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
NM_019023.5(PRMT7):c.347T>A (p.Ile116Asn) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001813607] Chr16:68329130 [GRCh38]
Chr16:68363033 [GRCh37]
Chr16:16q22.1		 likely pathogenic
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV000709800]|not provided [RCV001390248] Chr16:68339861 [GRCh38]
Chr16:68373764 [GRCh37]
Chr16:16q22.1		 pathogenic|likely pathogenic|not provided
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 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
NM_019023.5(PRMT7):c.1097G>A (p.Cys366Tyr) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001544514] Chr16:68346186 [GRCh38]
Chr16:68380089 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.621G>A (p.Glu207=) single nucleotide variant not provided [RCV000914379] Chr16:68339438 [GRCh38]
Chr16:68373341 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1236C>T (p.Ser412=) single nucleotide variant not provided [RCV000929170] Chr16:68347255 [GRCh38]
Chr16:68381158 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1062A>G (p.Glu354=) single nucleotide variant PRMT7-related disorder [RCV003918447]|not provided [RCV000970890] Chr16:68346151 [GRCh38]
Chr16:68380054 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.261C>T (p.Ala87=) single nucleotide variant not provided [RCV000925431] Chr16:68324811 [GRCh38]
Chr16:68358714 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1461G>A (p.Pro487=) single nucleotide variant not provided [RCV000903347] Chr16:68352295 [GRCh38]
Chr16:68386198 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.996G>A (p.Ala332=) single nucleotide variant not provided [RCV000922110] Chr16:68345743 [GRCh38]
Chr16:68379646 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.961C>T (p.Leu321=) single nucleotide variant not provided [RCV000926028] Chr16:68345708 [GRCh38]
Chr16:68379611 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.732G>A (p.Val244=) single nucleotide variant PRMT7-related disorder [RCV003910434]|not provided [RCV000883996] Chr16:68339549 [GRCh38]
Chr16:68373452 [GRCh37]
Chr16:16q22.1		 benign|likely benign
NM_019023.5(PRMT7):c.1951TTC[1] (p.Phe652del) microsatellite PRMT7-related disorder [RCV003930605]|not provided [RCV000883997]|not specified [RCV003151177] Chr16:68357095..68357097 [GRCh38]
Chr16:68390998..68391000 [GRCh37]
Chr16:16q22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019023.5(PRMT7):c.747-4T>A single nucleotide variant not provided [RCV000921912] Chr16:68339784 [GRCh38]
Chr16:68373687 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.420C>A (p.Ile140=) single nucleotide variant PRMT7-related disorder [RCV003922929]|not provided [RCV000898835]|not specified [RCV001818736] Chr16:68337487 [GRCh38]
Chr16:68371390 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1811+7G>T single nucleotide variant not provided [RCV000942558] Chr16:68355890 [GRCh38]
Chr16:68389793 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1788C>T (p.Ala596=) single nucleotide variant PRMT7-related disorder [RCV003913133]|not provided [RCV000926737] Chr16:68355860 [GRCh38]
Chr16:68389763 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.1851C>T (p.Tyr617=) single nucleotide variant PRMT7-related disorder [RCV003903085]|not provided [RCV000931255] Chr16:68356740 [GRCh38]
Chr16:68390643 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1192-4G>A single nucleotide variant not provided [RCV000909421] Chr16:68347207 [GRCh38]
Chr16:68381110 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1949A>G (p.Tyr650Cys) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV000790984] Chr16:68357094 [GRCh38]
Chr16:68390997 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 copy number loss not provided [RCV001006797] Chr16:65669673..70180183 [GRCh37]
Chr16:16q21-22.1		 pathogenic
NM_019023.5(PRMT7):c.1499dup (p.Asp501fs) duplication Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001199929] Chr16:68352332..68352333 [GRCh38]
Chr16:68386235..68386236 [GRCh37]
Chr16:16q22.1		 likely pathogenic
NM_019023.5(PRMT7):c.77del (p.Tyr26fs) deletion not provided [RCV001223769] Chr16:68316056 [GRCh38]
Chr16:68349959 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.646G>A (p.Val216Met) single nucleotide variant Inborn genetic diseases [RCV003272498] Chr16:68339463 [GRCh38]
Chr16:68373366 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.838T>A (p.Ser280Thr) single nucleotide variant Inborn genetic diseases [RCV003269926] Chr16:68339879 [GRCh38]
Chr16:68373782 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1165G>A (p.Asp389Asn) single nucleotide variant Inborn genetic diseases [RCV003248970] Chr16:68346254 [GRCh38]
Chr16:68380157 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1489C>T (p.Arg497Trp) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001198669]|not provided [RCV002561065] Chr16:68352323 [GRCh38]
Chr16:68386226 [GRCh37]
Chr16:16q22.1		 uncertain significance
NC_000016.9:g.(?_68349883)_(68732303_?)del deletion not provided [RCV003107474] Chr16:68349883..68732303 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.1945G>A (p.Val649Ile) single nucleotide variant PRMT7-related disorder [RCV003910520]|Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV003130084]|not provided [RCV000888022] Chr16:68357090 [GRCh38]
Chr16:68390993 [GRCh37]
Chr16:16q22.1		 likely benign|uncertain significance
NM_019023.5(PRMT7):c.1079G>A (p.Arg360His) single nucleotide variant PRMT7-related disorder [RCV004754626]|not provided [RCV000909999] Chr16:68346168 [GRCh38]
Chr16:68380071 [GRCh37]
Chr16:16q22.1		 benign|likely benign
NM_019023.5(PRMT7):c.1554C>T (p.His518=) single nucleotide variant not provided [RCV000923247] Chr16:68352388 [GRCh38]
Chr16:68386291 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1275+9A>G single nucleotide variant not provided [RCV000919267] Chr16:68347303 [GRCh38]
Chr16:68381206 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1308C>T (p.His436=) single nucleotide variant not provided [RCV000933264] Chr16:68347663 [GRCh38]
Chr16:68381566 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.981G>A (p.Val327=) single nucleotide variant not provided [RCV000887060] Chr16:68345728 [GRCh38]
Chr16:68379631 [GRCh37]
Chr16:16q22.1		 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_019023.5(PRMT7):c.600C>T (p.His200=) single nucleotide variant not provided [RCV000957445] Chr16:68339417 [GRCh38]
Chr16:68373320 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.279C>T (p.Ile93=) single nucleotide variant not provided [RCV000911232] Chr16:68324829 [GRCh38]
Chr16:68358732 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1029C>T (p.Cys343=) single nucleotide variant not provided [RCV000913666] Chr16:68345776 [GRCh38]
Chr16:68379679 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.1999A>G (p.Thr667Ala) single nucleotide variant not provided [RCV000890215] Chr16:68357144 [GRCh38]
Chr16:68391047 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1980A>T (p.Ala660=) single nucleotide variant not provided [RCV000934072] Chr16:68357125 [GRCh38]
Chr16:68391028 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.-83-1G>A single nucleotide variant not provided [RCV003236007] Chr16:68315896 [GRCh38]
Chr16:68349799 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.-218-3C>G single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV002468479] Chr16:68312039 [GRCh38]
Chr16:68345942 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q22.1(chr16:68326200-68970975)x3 copy number gain not provided [RCV002472657] Chr16:68326200..68970975 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1780_1781del (p.Leu594fs) deletion not provided [RCV001008917] Chr16:68355852..68355853 [GRCh38]
Chr16:68389755..68389756 [GRCh37]
Chr16:16q22.1		 likely pathogenic
NM_019023.5(PRMT7):c.1797C>T (p.Thr599=) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001789526]|not provided [RCV001684127] Chr16:68355869 [GRCh38]
Chr16:68389772 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.1815C>T (p.Pro605=) single nucleotide variant PRMT7-related disorder [RCV003945901]|not provided [RCV001171916] Chr16:68356704 [GRCh38]
Chr16:68390607 [GRCh37]
Chr16:16q22.1		 benign|likely benign
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs) microsatellite Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001199406] Chr16:68346158..68346159 [GRCh38]
Chr16:68380061..68380062 [GRCh37]
Chr16:16q22.1		 pathogenic|likely pathogenic
NM_019023.5(PRMT7):c.1078C>T (p.Arg360Cys) single nucleotide variant Inborn genetic diseases [RCV002547319]|Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001334039] Chr16:68346167 [GRCh38]
Chr16:68380070 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1402C>T (p.Gln468Ter) single nucleotide variant Inborn genetic diseases [RCV001267203] Chr16:68348420 [GRCh38]
Chr16:68382323 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.931C>T (p.Arg311Trp) single nucleotide variant Inborn genetic diseases [RCV001267204] Chr16:68345678 [GRCh38]
Chr16:68379581 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.148C>T (p.Gln50Ter) single nucleotide variant Neurodevelopmental abnormality [RCV001264713] Chr16:68324698 [GRCh38]
Chr16:68358601 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.1413+2T>G single nucleotide variant not provided [RCV001268322] Chr16:68348433 [GRCh38]
Chr16:68382336 [GRCh37]
Chr16:16q22.1		 likely pathogenic
NM_019023.5(PRMT7):c.471del (p.Ser158fs) deletion Inborn genetic diseases [RCV001266542]|not provided [RCV003442820] Chr16:68337536 [GRCh38]
Chr16:68371439 [GRCh37]
Chr16:16q22.1		 pathogenic|likely pathogenic
NM_019023.5(PRMT7):c.499G>A (p.Val167Met) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001329104]|not provided [RCV001796446] Chr16:68337566 [GRCh38]
Chr16:68371469 [GRCh37]
Chr16:16q22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_019023.5(PRMT7):c.1017C>T (p.His339=) single nucleotide variant not provided [RCV004598620] Chr16:68345764 [GRCh38]
Chr16:68379667 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.280G>A (p.Glu94Lys) single nucleotide variant not provided [RCV001314941] Chr16:68324830 [GRCh38]
Chr16:68358733 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1726G>A (p.Glu576Lys) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001334040] Chr16:68355798 [GRCh38]
Chr16:68389701 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.282+3A>G single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001334041] Chr16:68324835 [GRCh38]
Chr16:68358738 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.622del (p.Gln208fs) deletion Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001420150] Chr16:68339439 [GRCh38]
Chr16:68373342 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.927G>T (p.Gln309His) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001420151] Chr16:68339968 [GRCh38]
Chr16:68373871 [GRCh37]
Chr16:16q22.1		 likely pathogenic
NM_019023.5(PRMT7):c.1632C>T (p.Ile544=) single nucleotide variant not provided [RCV003108696] Chr16:68353548 [GRCh38]
Chr16:68387451 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1816G>A (p.Gly606Arg) single nucleotide variant not provided [RCV001756999] Chr16:68356705 [GRCh38]
Chr16:68390608 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.374A>G (p.Glu125Gly) single nucleotide variant not provided [RCV001754413] Chr16:68329157 [GRCh38]
Chr16:68363060 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.98C>A (p.Ser33Ter) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001784880] Chr16:68321428 [GRCh38]
Chr16:68355331 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.224C>T (p.Thr75Met) single nucleotide variant Epileptic encephalopathy [RCV001800167] Chr16:68324774 [GRCh38]
Chr16:68358677 [GRCh37]
Chr16:16q22.1		 likely pathogenic
NM_019023.5(PRMT7):c.1276-18G>A single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001789598]|not provided [RCV002074115] Chr16:68347613 [GRCh38]
Chr16:68381516 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.320T>G (p.Val107Gly) single nucleotide variant not provided [RCV001767603] Chr16:68329103 [GRCh38]
Chr16:68363006 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1436C>T (p.Pro479Leu) single nucleotide variant not provided [RCV001772524] Chr16:68352270 [GRCh38]
Chr16:68386173 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1638C>T (p.Asp546=) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001789564]|not provided [RCV001764926] Chr16:68353554 [GRCh38]
Chr16:68387457 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.-221C>T single nucleotide variant not specified [RCV001733704] Chr16:68311097 [GRCh38]
Chr16:68345000 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.457dup (p.Glu153fs) duplication Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001806400] Chr16:68337520..68337521 [GRCh38]
Chr16:68371423..68371424 [GRCh37]
Chr16:16q22.1		 likely pathogenic
NM_019023.5(PRMT7):c.1650+27A>C single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001789599]|not provided [RCV004710371] Chr16:68353593 [GRCh38]
Chr16:68387496 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.1905C>T (p.Pro635=) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV001789600]|not provided [RCV002074116] Chr16:68356794 [GRCh38]
Chr16:68390697 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.391+5G>C single nucleotide variant not provided [RCV001768456] Chr16:68329179 [GRCh38]
Chr16:68363082 [GRCh37]
Chr16:16q22.1		 likely pathogenic|uncertain significance
NM_019023.5(PRMT7):c.1764G>A (p.Pro588=) single nucleotide variant not specified [RCV001819373] Chr16:68355836 [GRCh38]
Chr16:68389739 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1575+8A>T single nucleotide variant not specified [RCV001820286] Chr16:68352417 [GRCh38]
Chr16:68386320 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.879G>A (p.Lys293=) single nucleotide variant not specified [RCV001822748] Chr16:68339920 [GRCh38]
Chr16:68373823 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1682C>G (p.Ala561Gly) single nucleotide variant Inborn genetic diseases [RCV003264136]|not provided [RCV001863777] Chr16:68355754 [GRCh38]
Chr16:68389657 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1127G>T (p.Arg376Leu) single nucleotide variant not provided [RCV001927610] Chr16:68346216 [GRCh38]
Chr16:68380119 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1132C>T (p.Arg378Trp) single nucleotide variant not provided [RCV002045023] Chr16:68346221 [GRCh38]
Chr16:68380124 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1494C>T (p.Thr498=) single nucleotide variant not provided [RCV001965954]|not specified [RCV003151371] Chr16:68352328 [GRCh38]
Chr16:68386231 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.735G>T (p.Leu245=) single nucleotide variant not provided [RCV002007576] Chr16:68339552 [GRCh38]
Chr16:68373455 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1169G>A (p.Arg390Gln) single nucleotide variant Inborn genetic diseases [RCV002557614]|not provided [RCV001909734] Chr16:68346258 [GRCh38]
Chr16:68380161 [GRCh37]
Chr16:16q22.1		 likely benign|uncertain significance
NC_000016.9:g.(?_66545871)_(72146396_?)dup duplication Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]|Immunodeficiency [RCV001900385]|not provided [RCV001900386] Chr16:66545871..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
NM_019023.5(PRMT7):c.1055+4C>T single nucleotide variant not provided [RCV001944153] Chr16:68345806 [GRCh38]
Chr16:68379709 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.994G>A (p.Ala332Thr) single nucleotide variant Inborn genetic diseases [RCV002561416]|not provided [RCV001941184] Chr16:68345741 [GRCh38]
Chr16:68379644 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1651-5C>T single nucleotide variant not provided [RCV002110320] Chr16:68355718 [GRCh38]
Chr16:68389621 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.840G>A (p.Ser280=) single nucleotide variant not provided [RCV002113068] Chr16:68339881 [GRCh38]
Chr16:68373784 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1908+16C>T single nucleotide variant not provided [RCV002150982] Chr16:68356813 [GRCh38]
Chr16:68390716 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.708C>T (p.Ala236=) single nucleotide variant not provided [RCV002194466] Chr16:68339525 [GRCh38]
Chr16:68373428 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.391+13C>T single nucleotide variant not provided [RCV002194691] Chr16:68329187 [GRCh38]
Chr16:68363090 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.1323+12TTG[2] microsatellite not provided [RCV002116044] Chr16:68347690..68347692 [GRCh38]
Chr16:68381593..68381595 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.1413+20T>C single nucleotide variant not provided [RCV002193883] Chr16:68348451 [GRCh38]
Chr16:68382354 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.928-20G>A single nucleotide variant not provided [RCV002200390] Chr16:68345655 [GRCh38]
Chr16:68379558 [GRCh37]
Chr16:16q22.1		 likely benign
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg) single nucleotide variant Epilepsy, progressive myoclonic, 12 [RCV001293363]|Generalized myoclonic seizure [RCV001250043]|not provided [RCV002253788]|not specified [RCV004671301] Chr16:68310736 [GRCh38]
Chr16:68344639 [GRCh37]
Chr16:16q22.1		 pathogenic|likely pathogenic|uncertain significance
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_019023.5(PRMT7):c.1651-4G>A single nucleotide variant not provided [RCV002178383] Chr16:68355719 [GRCh38]
Chr16:68389622 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.1908+11C>T single nucleotide variant not provided [RCV002155953] Chr16:68356808 [GRCh38]
Chr16:68390711 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.1678G>A (p.Glu560Lys) single nucleotide variant not provided [RCV003110693] Chr16:68355750 [GRCh38]
Chr16:68389653 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1324-5C>T single nucleotide variant not provided [RCV003117916] Chr16:68348337 [GRCh38]
Chr16:68382240 [GRCh37]
Chr16:16q22.1		 likely benign
NC_000016.9:g.(?_65821800)_(72146396_?)del deletion Dyskeratosis congenita, autosomal dominant 6 [RCV003122496] Chr16:65821800..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
NM_019023.5(PRMT7):c.455G>A (p.Gly152Glu) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV002226912]|not provided [RCV004697192] Chr16:68337522 [GRCh38]
Chr16:68371425 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1490G>A (p.Arg497Gln) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV002251237]|not provided [RCV003443013] Chr16:68352324 [GRCh38]
Chr16:68386227 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1323+2T>G single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV002260536] Chr16:68347680 [GRCh38]
Chr16:68381583 [GRCh37]
Chr16:16q22.1		 likely pathogenic
NM_019023.5(PRMT7):c.1220G>A (p.Cys407Tyr) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV002260535] Chr16:68347239 [GRCh38]
Chr16:68381142 [GRCh37]
Chr16:16q22.1		 likely pathogenic
NM_019023.5(PRMT7):c.2029G>A (p.Asp677Asn) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV002468536]|not provided [RCV003546855] Chr16:68357174 [GRCh38]
Chr16:68391077 [GRCh37]
Chr16:16q22.1		 likely benign|uncertain significance
NM_019023.5(PRMT7):c.1335_1338dup (p.His447Ter) duplication Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV002510670] Chr16:68348351..68348352 [GRCh38]
Chr16:68382254..68382255 [GRCh37]
Chr16:16q22.1		 likely pathogenic
NM_019023.5(PRMT7):c.1146C>G (p.Ile382Met) single nucleotide variant Inborn genetic diseases [RCV003013026] Chr16:68346235 [GRCh38]
Chr16:68380138 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.259G>A (p.Ala87Thr) single nucleotide variant not provided [RCV003075086] Chr16:68324809 [GRCh38]
Chr16:68358712 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.386G>A (p.Gly129Asp) single nucleotide variant Inborn genetic diseases [RCV002883928] Chr16:68329169 [GRCh38]
Chr16:68363072 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.257G>T (p.Gly86Val) single nucleotide variant Inborn genetic diseases [RCV002882489] Chr16:68324807 [GRCh38]
Chr16:68358710 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1486G>A (p.Val496Met) single nucleotide variant not provided [RCV002690297] Chr16:68352320 [GRCh38]
Chr16:68386223 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1591C>T (p.Arg531Trp) single nucleotide variant Inborn genetic diseases [RCV002688998] Chr16:68353507 [GRCh38]
Chr16:68387410 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1073G>C (p.Arg358Thr) single nucleotide variant Inborn genetic diseases [RCV002837205] Chr16:68346162 [GRCh38]
Chr16:68380065 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.2038G>A (p.Asp680Asn) single nucleotide variant Inborn genetic diseases [RCV002901799] Chr16:68357183 [GRCh38]
Chr16:68391086 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.821G>A (p.Arg274Gln) single nucleotide variant Inborn genetic diseases [RCV002686632] Chr16:68339862 [GRCh38]
Chr16:68373765 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1651-5C>A single nucleotide variant Inborn genetic diseases [RCV002772073] Chr16:68355718 [GRCh38]
Chr16:68389621 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1259A>G (p.His420Arg) single nucleotide variant Inborn genetic diseases [RCV002773161] Chr16:68347278 [GRCh38]
Chr16:68381181 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1083G>T (p.Gln361His) single nucleotide variant not provided [RCV002686074] Chr16:68346172 [GRCh38]
Chr16:68380075 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1715G>A (p.Arg572His) single nucleotide variant Inborn genetic diseases [RCV002739821] Chr16:68355787 [GRCh38]
Chr16:68389690 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1471C>A (p.Leu491Ile) single nucleotide variant not provided [RCV002953394] Chr16:68352305 [GRCh38]
Chr16:68386208 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1961C>T (p.Pro654Leu) single nucleotide variant Inborn genetic diseases [RCV002707589] Chr16:68357106 [GRCh38]
Chr16:68391009 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1498G>A (p.Val500Met) single nucleotide variant Inborn genetic diseases [RCV002869286] Chr16:68352332 [GRCh38]
Chr16:68386235 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1714C>T (p.Arg572Cys) single nucleotide variant Inborn genetic diseases [RCV002977001]|not provided [RCV004725617] Chr16:68355786 [GRCh38]
Chr16:68389689 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.504+9C>T single nucleotide variant not provided [RCV003077566] Chr16:68337580 [GRCh38]
Chr16:68371483 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.535A>G (p.Thr179Ala) single nucleotide variant not provided [RCV002662563] Chr16:68339352 [GRCh38]
Chr16:68373255 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.166G>A (p.Val56Met) single nucleotide variant Inborn genetic diseases [RCV002757139] Chr16:68324716 [GRCh38]
Chr16:68358619 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1422CCT[1] (p.Leu476del) microsatellite Inborn genetic diseases [RCV002821490] Chr16:68352254..68352256 [GRCh38]
Chr16:68386157..68386159 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.529A>G (p.Arg177Gly) single nucleotide variant Inborn genetic diseases [RCV003027506]|not provided [RCV003035279] Chr16:68339346 [GRCh38]
Chr16:68373249 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.139A>C (p.Lys47Gln) single nucleotide variant Inborn genetic diseases [RCV002765058] Chr16:68324689 [GRCh38]
Chr16:68358592 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.29C>T (p.Pro10Leu) single nucleotide variant not provided [RCV002745691] Chr16:68316008 [GRCh38]
Chr16:68349911 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.526C>T (p.His176Tyr) single nucleotide variant Inborn genetic diseases [RCV002986833] Chr16:68339343 [GRCh38]
Chr16:68373246 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1555G>A (p.Ala519Thr) single nucleotide variant Inborn genetic diseases [RCV002594929]|not provided [RCV002630355] Chr16:68352389 [GRCh38]
Chr16:68386292 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.652A>G (p.Ser218Gly) single nucleotide variant Inborn genetic diseases [RCV002891847] Chr16:68339469 [GRCh38]
Chr16:68373372 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1324-3A>G single nucleotide variant not provided [RCV003082603] Chr16:68348339 [GRCh38]
Chr16:68382242 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1413+7A>G single nucleotide variant not provided [RCV002786472] Chr16:68348438 [GRCh38]
Chr16:68382341 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1473C>T (p.Leu491=) single nucleotide variant not provided [RCV002627107] Chr16:68352307 [GRCh38]
Chr16:68386210 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1264G>C (p.Gly422Arg) single nucleotide variant Inborn genetic diseases [RCV003073474]|not provided [RCV003081969] Chr16:68347283 [GRCh38]
Chr16:68381186 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1030G>A (p.Val344Ile) single nucleotide variant Inborn genetic diseases [RCV002666130] Chr16:68345777 [GRCh38]
Chr16:68379680 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1763C>T (p.Pro588Leu) single nucleotide variant Inborn genetic diseases [RCV003167762]|not provided [RCV002786209] Chr16:68355835 [GRCh38]
Chr16:68389738 [GRCh37]
Chr16:16q22.1		 likely benign|uncertain significance
NM_019023.5(PRMT7):c.746+18T>C single nucleotide variant not provided [RCV002786456] Chr16:68339581 [GRCh38]
Chr16:68373484 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.583A>G (p.Lys195Glu) single nucleotide variant Inborn genetic diseases [RCV002929855] Chr16:68339400 [GRCh38]
Chr16:68373303 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1055+17G>C single nucleotide variant not provided [RCV002790363] Chr16:68345819 [GRCh38]
Chr16:68379722 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1908+17G>C single nucleotide variant not provided [RCV002875816] Chr16:68356814 [GRCh38]
Chr16:68390717 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1928C>T (p.Pro643Leu) single nucleotide variant Inborn genetic diseases [RCV002897171] Chr16:68357073 [GRCh38]
Chr16:68390976 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.157C>T (p.Arg53Trp) single nucleotide variant Inborn genetic diseases [RCV002770043] Chr16:68324707 [GRCh38]
Chr16:68358610 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1011C>G (p.Ala337=) single nucleotide variant not provided [RCV002577016] Chr16:68345758 [GRCh38]
Chr16:68379661 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1461G>C (p.Pro487=) single nucleotide variant not provided [RCV002770259] Chr16:68352295 [GRCh38]
Chr16:68386198 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1683T>G (p.Ala561=) single nucleotide variant not provided [RCV002938114] Chr16:68355755 [GRCh38]
Chr16:68389658 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.576G>A (p.Ser192=) single nucleotide variant not provided [RCV002635136] Chr16:68339393 [GRCh38]
Chr16:68373296 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1443C>T (p.Phe481=) single nucleotide variant not provided [RCV002658166] Chr16:68352277 [GRCh38]
Chr16:68386180 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.316A>G (p.Ile106Val) single nucleotide variant Inborn genetic diseases [RCV002723550] Chr16:68329099 [GRCh38]
Chr16:68363002 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.262G>A (p.Asp88Asn) single nucleotide variant Inborn genetic diseases [RCV003192258] Chr16:68324812 [GRCh38]
Chr16:68358715 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.254C>A (p.Ala85Glu) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV003228615] Chr16:68324804 [GRCh38]
Chr16:68358707 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.2018A>G (p.Glu673Gly) single nucleotide variant Inborn genetic diseases [RCV003205506] Chr16:68357163 [GRCh38]
Chr16:68391066 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1055+2T>A single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV004785034] Chr16:68345804 [GRCh38]
Chr16:68379707 [GRCh37]
Chr16:16q22.1		 likely pathogenic
NM_019023.5(PRMT7):c.542A>G (p.Tyr181Cys) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV003228586] Chr16:68339359 [GRCh38]
Chr16:68373262 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1556C>T (p.Ala519Val) single nucleotide variant Inborn genetic diseases [RCV003177882] Chr16:68352390 [GRCh38]
Chr16:68386293 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1915T>C (p.Cys639Arg) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV003135144]|not provided [RCV003410273] Chr16:68357060 [GRCh38]
Chr16:68390963 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.521T>C (p.Val174Ala) single nucleotide variant Inborn genetic diseases [RCV003304147] Chr16:68339338 [GRCh38]
Chr16:68373241 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.967C>T (p.Gln323Ter) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV003324206] Chr16:68345714 [GRCh38]
Chr16:68379617 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.742T>G (p.Phe248Val) single nucleotide variant Inborn genetic diseases [RCV003286426] Chr16:68339559 [GRCh38]
Chr16:68373462 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.484G>A (p.Ala162Thr) single nucleotide variant Inborn genetic diseases [RCV004334063]|not provided [RCV003321300] Chr16:68337551 [GRCh38]
Chr16:68371454 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1651-8G>A single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV003336030] Chr16:68355715 [GRCh38]
Chr16:68389618 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1373G>A (p.Arg458Gln) single nucleotide variant Inborn genetic diseases [RCV003343376] Chr16:68348391 [GRCh38]
Chr16:68382294 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1634T>C (p.Met545Thr) single nucleotide variant Inborn genetic diseases [RCV003379353] Chr16:68353550 [GRCh38]
Chr16:68387453 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1523C>T (p.Ala508Val) single nucleotide variant Inborn genetic diseases [RCV003351796] Chr16:68352357 [GRCh38]
Chr16:68386260 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.2032A>G (p.Thr678Ala) single nucleotide variant Inborn genetic diseases [RCV003351290]|not provided [RCV003549069] Chr16:68357177 [GRCh38]
Chr16:68391080 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.928-7G>A single nucleotide variant not provided [RCV003571476] Chr16:68345668 [GRCh38]
Chr16:68379571 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1908+17G>A single nucleotide variant not provided [RCV003880310] Chr16:68356814 [GRCh38]
Chr16:68390717 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.847del (p.Asp283fs) deletion not provided [RCV003569148] Chr16:68339886 [GRCh38]
Chr16:68373789 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.96-11_96-10del deletion not provided [RCV003826378] Chr16:68321411..68321412 [GRCh38]
Chr16:68355314..68355315 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1414-743C>T single nucleotide variant not provided [RCV003426751] Chr16:68351505 [GRCh38]
Chr16:68385408 [GRCh37]
Chr16:16q22.1		 likely benign
GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3 copy number gain not provided [RCV003485117] Chr16:67498380..68754276 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3 copy number gain not provided [RCV003485118] Chr16:68292285..69424236 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1652G>A (p.Arg551His) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV003448623] Chr16:68355724 [GRCh38]
Chr16:68389627 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.483C>T (p.His161=) single nucleotide variant not provided [RCV003411376] Chr16:68337550 [GRCh38]
Chr16:68371453 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.709G>A (p.Asp237Asn) single nucleotide variant Inborn genetic diseases [RCV004364541]|not provided [RCV003411377] Chr16:68339526 [GRCh38]
Chr16:68373429 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1944C>T (p.Ala648=) single nucleotide variant not provided [RCV003411380] Chr16:68357089 [GRCh38]
Chr16:68390992 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1651C>T (p.Arg551Cys) single nucleotide variant not provided [RCV003411379] Chr16:68355723 [GRCh38]
Chr16:68389626 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1576-60C>A single nucleotide variant not provided [RCV003411378] Chr16:68353432 [GRCh38]
Chr16:68387335 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.236C>T (p.Ser79Leu) single nucleotide variant PRMT7-related disorder [RCV003408459] Chr16:68324786 [GRCh38]
Chr16:68358689 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1839A>G (p.Leu613=) single nucleotide variant not provided [RCV003426753] Chr16:68356728 [GRCh38]
Chr16:68390631 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.524C>G (p.Pro175Arg) single nucleotide variant not provided [RCV003441432] Chr16:68339341 [GRCh38]
Chr16:68373244 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.931C>G (p.Arg311Gly) single nucleotide variant PRMT7-related disorder [RCV003416964] Chr16:68345678 [GRCh38]
Chr16:68379581 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1515G>C (p.Gly505=) single nucleotide variant not provided [RCV003426752] Chr16:68352349 [GRCh38]
Chr16:68386252 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.282+16C>G single nucleotide variant not provided [RCV003882593] Chr16:68324848 [GRCh38]
Chr16:68358751 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1071G>A (p.Glu357=) single nucleotide variant not provided [RCV003831476] Chr16:68346160 [GRCh38]
Chr16:68380063 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1191+17T>C single nucleotide variant not provided [RCV003881773] Chr16:68346297 [GRCh38]
Chr16:68380200 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.362A>G (p.Lys121Arg) single nucleotide variant not provided [RCV003828634] Chr16:68329145 [GRCh38]
Chr16:68363048 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1974C>T (p.Pro658=) single nucleotide variant not provided [RCV003544820] Chr16:68357119 [GRCh38]
Chr16:68391022 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.505-20T>G single nucleotide variant not provided [RCV003692736] Chr16:68339302 [GRCh38]
Chr16:68373205 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1281T>C (p.Phe427=) single nucleotide variant not provided [RCV003726177] Chr16:68347636 [GRCh38]
Chr16:68381539 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1168C>T (p.Arg390Ter) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV003995191] Chr16:68346257 [GRCh38]
Chr16:68380160 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.1276-17C>T single nucleotide variant not provided [RCV003856524] Chr16:68347614 [GRCh38]
Chr16:68381517 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.132+22_132+24del microsatellite not provided [RCV003816718] Chr16:68321481..68321483 [GRCh38]
Chr16:68355384..68355386 [GRCh37]
Chr16:16q22.1		 benign
NM_019023.5(PRMT7):c.453C>T (p.Ile151=) single nucleotide variant not provided [RCV003579852] Chr16:68337520 [GRCh38]
Chr16:68371423 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.423G>C (p.Leu141=) single nucleotide variant not provided [RCV003735923] Chr16:68337490 [GRCh38]
Chr16:68371393 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1595G>C (p.Ser532Thr) single nucleotide variant Inborn genetic diseases [RCV004374213]|not provided [RCV003729460] Chr16:68353511 [GRCh38]
Chr16:68387414 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1324-12T>G single nucleotide variant not provided [RCV003818570] Chr16:68348330 [GRCh38]
Chr16:68382233 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1911G>A (p.Gly637=) single nucleotide variant not provided [RCV003719741] Chr16:68357056 [GRCh38]
Chr16:68390959 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.2019G>A (p.Glu673=) single nucleotide variant not provided [RCV003719786] Chr16:68357164 [GRCh38]
Chr16:68391067 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.618A>G (p.Gly206=) single nucleotide variant not provided [RCV003670786] Chr16:68339435 [GRCh38]
Chr16:68373338 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1695G>A (p.Pro565=) single nucleotide variant not provided [RCV003727330] Chr16:68355767 [GRCh38]
Chr16:68389670 [GRCh37]
Chr16:16q22.1		 likely benign
GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3 copy number gain not specified [RCV003987175] Chr16:67583728..69977397 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.132+4A>C single nucleotide variant not provided [RCV003729577] Chr16:68321466 [GRCh38]
Chr16:68355369 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1377G>A (p.Pro459=) single nucleotide variant not provided [RCV003727280] Chr16:68348395 [GRCh38]
Chr16:68382298 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1909-9_1909-7del microsatellite not provided [RCV003706976] Chr16:68357040..68357042 [GRCh38]
Chr16:68390943..68390945 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.925C>G (p.Gln309Glu) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV003993589] Chr16:68339966 [GRCh38]
Chr16:68373869 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.89T>C (p.Ile30Thr) single nucleotide variant Inborn genetic diseases [RCV004515331] Chr16:68316068 [GRCh38]
Chr16:68349971 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1252G>T (p.Ala418Ser) single nucleotide variant Inborn genetic diseases [RCV004515324] Chr16:68347271 [GRCh38]
Chr16:68381174 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1024T>A (p.Tyr342Asn) single nucleotide variant Inborn genetic diseases [RCV004515323] Chr16:68345771 [GRCh38]
Chr16:68379674 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.937C>T (p.His313Tyr) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV004515767] Chr16:68345684 [GRCh38]
Chr16:68379587 [GRCh37]
Chr16:16q22.1		 likely pathogenic
NM_019023.5(PRMT7):c.1173C>G (p.Tyr391Ter) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV004555312] Chr16:68346262 [GRCh38]
Chr16:68380165 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.222C>T (p.Gly74=) single nucleotide variant not provided [RCV003885080] Chr16:68324772 [GRCh38]
Chr16:68358675 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.2055C>G (p.Phe685Leu) single nucleotide variant Inborn genetic diseases [RCV004515328] Chr16:68357200 [GRCh38]
Chr16:68391103 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.630C>T (p.Ile210=) single nucleotide variant Inborn genetic diseases [RCV004515330] Chr16:68339447 [GRCh38]
Chr16:68373350 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1898C>T (p.Ala633Val) single nucleotide variant Inborn genetic diseases [RCV004515327] Chr16:68356787 [GRCh38]
Chr16:68390690 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1288G>C (p.Glu430Gln) single nucleotide variant Inborn genetic diseases [RCV004515325] Chr16:68347643 [GRCh38]
Chr16:68381546 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.412G>A (p.Ala138Thr) single nucleotide variant Inborn genetic diseases [RCV004515329] Chr16:68337479 [GRCh38]
Chr16:68371382 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1586G>A (p.Arg529Gln) single nucleotide variant Inborn genetic diseases [RCV004515326] Chr16:68353502 [GRCh38]
Chr16:68387405 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.*636G>A single nucleotide variant not provided [RCV003885286] Chr16:68357860 [GRCh38]
Chr16:68391763 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.423G>A (p.Leu141=) single nucleotide variant PRMT7-related disorder [RCV003982241] Chr16:68337490 [GRCh38]
Chr16:68371393 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.876C>A (p.Ile292=) single nucleotide variant PRMT7-related disorder [RCV003924294] Chr16:68339917 [GRCh38]
Chr16:68373820 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.1789G>A (p.Glu597Lys) single nucleotide variant PRMT7-related disorder [RCV003954932] Chr16:68355861 [GRCh38]
Chr16:68389764 [GRCh37]
Chr16:16q22.1		 likely benign
NM_019023.5(PRMT7):c.282+1G>A single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV003990839] Chr16:68324833 [GRCh38]
Chr16:68358736 [GRCh37]
Chr16:16q22.1		 likely pathogenic
NM_019023.5(PRMT7):c.1678del (p.Glu560fs) deletion Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV004594846] Chr16:68355748 [GRCh38]
Chr16:68389651 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.1964C>T (p.Ala655Val) single nucleotide variant Inborn genetic diseases [RCV004660320] Chr16:68357109 [GRCh38]
Chr16:68391012 [GRCh37]
Chr16:16q22.1		 likely benign
NC_000016.9:g.(?_48799549)_(70756330_?)dup duplication Chromosome 16q12 duplication syndrome [RCV004595820] Chr16:48799549..70756330 [GRCh37]
Chr16:16q12.1-22.1		 likely pathogenic
NM_019023.5(PRMT7):c.1583G>T (p.Trp528Leu) single nucleotide variant Inborn genetic diseases [RCV004648797] Chr16:68353499 [GRCh38]
Chr16:68387402 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.156C>G (p.Ile52Met) single nucleotide variant not specified [RCV004689461] Chr16:68324706 [GRCh38]
Chr16:68358609 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.382G>C (p.Val128Leu) single nucleotide variant Inborn genetic diseases [RCV004648798] Chr16:68329165 [GRCh38]
Chr16:68363068 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1058C>T (p.Pro353Leu) single nucleotide variant Inborn genetic diseases [RCV004648796] Chr16:68346147 [GRCh38]
Chr16:68380050 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.164C>T (p.Ala55Val) single nucleotide variant not specified [RCV004689459] Chr16:68324714 [GRCh38]
Chr16:68358617 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.477T>A (p.Tyr159Ter) single nucleotide variant Short stature-brachydactyly-obesity-global developmental delay syndrome [RCV004766936] Chr16:68337544 [GRCh38]
Chr16:68371447 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_019023.5(PRMT7):c.2071C>T (p.Pro691Ser) single nucleotide variant not provided [RCV004723855] Chr16:68357216 [GRCh38]
Chr16:68391119 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1469A>G (p.Asn490Ser) single nucleotide variant not provided [RCV004724116] Chr16:68352303 [GRCh38]
Chr16:68386206 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_019023.5(PRMT7):c.1126C>T (p.Arg376Trp) single nucleotide variant not provided [RCV004776229] Chr16:68346215 [GRCh38]
Chr16:68380118 [GRCh37]
Chr16:16q22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6659
Count of miRNA genes:1257
Interacting mature miRNAs:1643
Transcripts:ENST00000339507, ENST00000348497, ENST00000441236, ENST00000449359, ENST00000561806, ENST00000562050, ENST00000562381, ENST00000562456, ENST00000563443, ENST00000563520, ENST00000563562, ENST00000563608, ENST00000564050, ENST00000564441, ENST00000565356, ENST00000565745, ENST00000565761, ENST00000565983, ENST00000566341, ENST00000566430, ENST00000566657, ENST00000566687, ENST00000566708, ENST00000567542, ENST00000568463, ENST00000568975, ENST00000569047, ENST00000569571
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
407041074GWAS690050_Hbody mass index QTL GWAS690050 (human)0.0000004body mass indexbody mass index (BMI) (CMO:0000105)166834807568348076Human
407042855GWAS691831_Hbody mass index QTL GWAS691831 (human)4e-10body mass indexbody mass index (BMI) (CMO:0000105)166834807568348076Human
407028551GWAS677527_Hmagnesium measurement QTL GWAS677527 (human)0.000002magnesium measurementserum magnesium level (CMO:0000541)166834914468349145Human
407037737GWAS686713_Hbody mass index QTL GWAS686713 (human)0.000001body mass indexbody mass index (BMI) (CMO:0000105)166834807568348076Human

Markers in Region
SHGC-61160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,392,252 - 68,392,440UniSTSGRCh37
Build 361666,949,753 - 66,949,941RGDNCBI36
Celera1652,900,801 - 52,900,989RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,265,475 - 54,265,663UniSTS
GeneMap99-GB4 RH Map16406.33UniSTS
NCBI RH Map16508.6UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1204 2434 2788 2245 4957 1724 2348 4 622 1949 464 2268 7288 6458 52 3723 849 1736 1614 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_054896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB067520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX239965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX876877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB140365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA287041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA648148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB150163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000339507   ⟹   ENSP00000343103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,134 - 68,358,553 (+)Ensembl
Ensembl Acc Id: ENST00000441236   ⟹   ENSP00000409324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,019 - 68,358,584 (+)Ensembl
Ensembl Acc Id: ENST00000449359   ⟹   ENSP00000414716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,056 - 68,357,259 (+)Ensembl
Ensembl Acc Id: ENST00000561806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,315,880 - 68,329,226 (+)Ensembl
Ensembl Acc Id: ENST00000562050   ⟹   ENSP00000457381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,010 - 68,357,251 (+)Ensembl
Ensembl Acc Id: ENST00000562381   ⟹   ENSP00000456364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,310,974 - 68,337,571 (+)Ensembl
Ensembl Acc Id: ENST00000562456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,315,951 - 68,324,865 (+)Ensembl
Ensembl Acc Id: ENST00000563443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,324,699 - 68,328,510 (+)Ensembl
Ensembl Acc Id: ENST00000563520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,070 - 68,339,945 (+)Ensembl
Ensembl Acc Id: ENST00000563562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,315,842 - 68,337,525 (+)Ensembl
Ensembl Acc Id: ENST00000563608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,352,069 - 68,356,749 (+)Ensembl
Ensembl Acc Id: ENST00000564050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,054 - 68,346,280 (+)Ensembl
Ensembl Acc Id: ENST00000564441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,068 - 68,339,968 (+)Ensembl
Ensembl Acc Id: ENST00000565356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,064 - 68,352,660 (+)Ensembl
Ensembl Acc Id: ENST00000565745   ⟹   ENSP00000456190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,010 - 68,357,243 (+)Ensembl
Ensembl Acc Id: ENST00000565761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,323,689 - 68,329,159 (+)Ensembl
Ensembl Acc Id: ENST00000565983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,114 - 68,315,957 (+)Ensembl
Ensembl Acc Id: ENST00000566341   ⟹   ENSP00000455705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,050 - 68,337,521 (+)Ensembl
Ensembl Acc Id: ENST00000566430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,315,979 - 68,321,711 (+)Ensembl
Ensembl Acc Id: ENST00000566657   ⟹   ENSP00000454980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,310,974 - 68,324,790 (+)Ensembl
Ensembl Acc Id: ENST00000566687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,346,121 - 68,348,433 (+)Ensembl
Ensembl Acc Id: ENST00000566708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,348,407 - 68,352,056 (+)Ensembl
Ensembl Acc Id: ENST00000567542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,323,983 - 68,358,563 (+)Ensembl
Ensembl Acc Id: ENST00000568463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,354,329 - 68,357,249 (+)Ensembl
Ensembl Acc Id: ENST00000568975   ⟹   ENSP00000454776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,315,195 - 68,357,259 (+)Ensembl
Ensembl Acc Id: ENST00000569047   ⟹   ENSP00000456848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,056 - 68,339,326 (+)Ensembl
Ensembl Acc Id: ENST00000569571   ⟹   ENSP00000455538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,040 - 68,339,486 (+)Ensembl
Ensembl Acc Id: ENST00000675132   ⟹   ENSP00000501903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,019 - 68,358,524 (+)Ensembl
Ensembl Acc Id: ENST00000685109   ⟹   ENSP00000510738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,010 - 68,357,238 (+)Ensembl
Ensembl Acc Id: ENST00000685141   ⟹   ENSP00000510413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,010 - 68,358,488 (+)Ensembl
Ensembl Acc Id: ENST00000686053   ⟹   ENSP00000509773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,051 - 68,358,493 (+)Ensembl
Ensembl Acc Id: ENST00000686346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,354,820 - 68,357,226 (+)Ensembl
Ensembl Acc Id: ENST00000686904   ⟹   ENSP00000510630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,310,951 - 68,358,490 (+)Ensembl
Ensembl Acc Id: ENST00000687444   ⟹   ENSP00000508888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,028 - 68,357,243 (+)Ensembl
Ensembl Acc Id: ENST00000687558   ⟹   ENSP00000509003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,119 - 68,358,493 (+)Ensembl
Ensembl Acc Id: ENST00000687654   ⟹   ENSP00000509677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,019 - 68,360,852 (+)Ensembl
Ensembl Acc Id: ENST00000688470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,019 - 68,358,515 (+)Ensembl
Ensembl Acc Id: ENST00000688969   ⟹   ENSP00000509113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,359 - 68,358,493 (+)Ensembl
Ensembl Acc Id: ENST00000689486   ⟹   ENSP00000509523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,310,982 - 68,357,243 (+)Ensembl
Ensembl Acc Id: ENST00000689637   ⟹   ENSP00000509781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,010 - 68,357,233 (+)Ensembl
Ensembl Acc Id: ENST00000690311   ⟹   ENSP00000509264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,063 - 68,357,238 (+)Ensembl
Ensembl Acc Id: ENST00000690432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,022 - 68,354,539 (+)Ensembl
Ensembl Acc Id: ENST00000690932   ⟹   ENSP00000509008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,028 - 68,357,859 (+)Ensembl
Ensembl Acc Id: ENST00000691663   ⟹   ENSP00000510167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,053 - 68,358,493 (+)Ensembl
Ensembl Acc Id: ENST00000691804   ⟹   ENSP00000509455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,028 - 68,358,493 (+)Ensembl
Ensembl Acc Id: ENST00000691833   ⟹   ENSP00000510744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,019 - 68,358,515 (+)Ensembl
Ensembl Acc Id: ENST00000691961   ⟹   ENSP00000510574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,028 - 68,358,493 (+)Ensembl
Ensembl Acc Id: ENST00000692283   ⟹   ENSP00000508499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,040 - 68,357,245 (+)Ensembl
Ensembl Acc Id: ENST00000692621   ⟹   ENSP00000509231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,047 - 68,357,244 (+)Ensembl
Ensembl Acc Id: ENST00000692632   ⟹   ENSP00000510669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,028 - 68,357,245 (+)Ensembl
Ensembl Acc Id: ENST00000692760   ⟹   ENSP00000510748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,016 - 68,358,493 (+)Ensembl
Ensembl Acc Id: ENST00000692867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,010 - 68,354,180 (+)Ensembl
Ensembl Acc Id: ENST00000692966   ⟹   ENSP00000510428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,051 - 68,357,224 (+)Ensembl
Ensembl Acc Id: ENST00000693200   ⟹   ENSP00000508937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,310,993 - 68,358,493 (+)Ensembl
Ensembl Acc Id: ENST00000693309   ⟹   ENSP00000510806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,059 - 68,357,243 (+)Ensembl
Ensembl Acc Id: ENST00000693670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,311,010 - 68,352,819 (+)Ensembl
RefSeq Acc Id: NM_001184824   ⟹   NP_001171753
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
GRCh371668,344,877 - 68,391,169 (+)RGD
GRCh371668,344,877 - 68,391,169 (+)NCBI
Celera1652,853,382 - 52,899,696 (+)RGD
HuRef1654,218,054 - 54,264,367 (+)RGD
CHM1_11669,752,898 - 69,799,208 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001290018   ⟹   NP_001276947
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,114 - 68,358,584 (+)NCBI
CHM1_11669,753,038 - 69,799,208 (+)NCBI
T2T-CHM13v2.01674,106,892 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351143   ⟹   NP_001338072
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351144   ⟹   NP_001338073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378018   ⟹   NP_001364947
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378020   ⟹   NP_001364949
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378021   ⟹   NP_001364950
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378022   ⟹   NP_001364951
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378023   ⟹   NP_001364952
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NM_019023   ⟹   NP_061896
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
GRCh371668,344,877 - 68,391,169 (+)NCBI
Build 361666,902,446 - 66,948,663 (+)NCBI Archive
Celera1652,853,382 - 52,899,696 (+)RGD
HuRef1654,218,054 - 54,264,367 (+)RGD
CHM1_11669,752,898 - 69,799,208 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147056
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147057
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147058
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165365
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165366
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165367
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165368
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165369
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165370
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165371
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165372
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165373
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523112   ⟹   XP_011521414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523113   ⟹   XP_011521415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523115   ⟹   XP_011521417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523116   ⟹   XP_011521418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523121   ⟹   XP_011521423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023292   ⟹   XP_016878781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023296   ⟹   XP_016878785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,360,870 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023297   ⟹   XP_016878786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,360,870 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023298   ⟹   XP_016878787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023299   ⟹   XP_016878788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023300   ⟹   XP_016878789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023301   ⟹   XP_016878790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023304   ⟹   XP_016878793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,356,787 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434217   ⟹   XP_047290173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434218   ⟹   XP_047290174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434219   ⟹   XP_047290175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434220   ⟹   XP_047290176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,360,870 (+)NCBI
RefSeq Acc Id: XM_047434221   ⟹   XP_047290177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,360,870 (+)NCBI
RefSeq Acc Id: XM_047434222   ⟹   XP_047290178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,360,870 (+)NCBI
RefSeq Acc Id: XM_047434223   ⟹   XP_047290179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434224   ⟹   XP_047290180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434225   ⟹   XP_047290181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434226   ⟹   XP_047290182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434227   ⟹   XP_047290183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434228   ⟹   XP_047290184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434229   ⟹   XP_047290185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434230   ⟹   XP_047290186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,316,061 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434231   ⟹   XP_047290187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,355,760 (+)NCBI
RefSeq Acc Id: XM_047434232   ⟹   XP_047290188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,355,760 (+)NCBI
RefSeq Acc Id: XM_047434233   ⟹   XP_047290189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,316,057 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434234   ⟹   XP_047290190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434235   ⟹   XP_047290191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_047434236   ⟹   XP_047290192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,355,760 (+)NCBI
RefSeq Acc Id: XM_047434237   ⟹   XP_047290193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,351,817 (+)NCBI
RefSeq Acc Id: XM_047434238   ⟹   XP_047290194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,355,760 (+)NCBI
RefSeq Acc Id: XM_047434239   ⟹   XP_047290195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,351,396 - 68,358,584 (+)NCBI
RefSeq Acc Id: XM_054380479   ⟹   XP_054236454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380480   ⟹   XP_054236455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380481   ⟹   XP_054236456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,892 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380482   ⟹   XP_054236457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,892 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380483   ⟹   XP_054236458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380484   ⟹   XP_054236459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,892 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380485   ⟹   XP_054236460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,156,712 (+)NCBI
RefSeq Acc Id: XM_054380486   ⟹   XP_054236461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,156,712 (+)NCBI
RefSeq Acc Id: XM_054380487   ⟹   XP_054236462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,156,712 (+)NCBI
RefSeq Acc Id: XM_054380488   ⟹   XP_054236463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,156,712 (+)NCBI
RefSeq Acc Id: XM_054380489   ⟹   XP_054236464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,156,712 (+)NCBI
RefSeq Acc Id: XM_054380490   ⟹   XP_054236465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380491   ⟹   XP_054236466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380492   ⟹   XP_054236467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380493   ⟹   XP_054236468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,892 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380494   ⟹   XP_054236469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380495   ⟹   XP_054236470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380496   ⟹   XP_054236471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380497   ⟹   XP_054236472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380498   ⟹   XP_054236473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380499   ⟹   XP_054236474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380500   ⟹   XP_054236475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380501   ⟹   XP_054236476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,892 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380502   ⟹   XP_054236477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,151,575 (+)NCBI
RefSeq Acc Id: XM_054380503   ⟹   XP_054236478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,151,575 (+)NCBI
RefSeq Acc Id: XM_054380504   ⟹   XP_054236479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,151,575 (+)NCBI
RefSeq Acc Id: XM_054380505   ⟹   XP_054236480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,151,575 (+)NCBI
RefSeq Acc Id: XM_054380506   ⟹   XP_054236481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380507   ⟹   XP_054236482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,154,424 (+)NCBI
RefSeq Acc Id: XM_054380508   ⟹   XP_054236483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,151,575 (+)NCBI
RefSeq Acc Id: XM_054380509   ⟹   XP_054236484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,147,632 (+)NCBI
RefSeq Acc Id: XM_054380510   ⟹   XP_054236485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,147,632 (+)NCBI
RefSeq Acc Id: XM_054380511   ⟹   XP_054236486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,151,575 (+)NCBI
RefSeq Acc Id: XR_001751915
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002957814
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007064885
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XR_007064886
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XR_007064887
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XR_007064888
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,311,019 - 68,358,584 (+)NCBI
RefSeq Acc Id: XR_008489094
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,156,712 (+)NCBI
RefSeq Acc Id: XR_008489095
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,156,712 (+)NCBI
RefSeq Acc Id: XR_008489096
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,156,712 (+)NCBI
RefSeq Acc Id: XR_008489097
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,156,712 (+)NCBI
RefSeq Acc Id: XR_008489098
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,156,712 (+)NCBI
RefSeq Acc Id: XR_008489099
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,106,797 - 74,156,712 (+)NCBI