chr4:6301627:G>A Detail (hg38) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,303,354-6,303,354 View the variant detail on this assembly version.
hg38 chr4:6,301,627-6,301,627

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.1832G>A NP_001139325.1:p.Arg611His
NM_006005.3:c.1832G>A NP_005996.2:p.Arg611His
Ensemble ENST00000226760.5:c.1832G>A ENST00000226760.5:p.Arg611His
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.850
ToMMo:0.865
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.836

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606201 OMIM
HGNC 12762 HGNC
Ensembl ENSG00000109501 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15958530 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Wolfram syndrome germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2013-07-30 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2017-04-27 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 6 germline Detail
Benign 2017-04-27 criteria provided, single submitter WFS1-Related Spectrum Disorders germline Detail
Benign Likely benign 2019-05-28 criteria provided, multiple submitters, no conflicts Wolfram syndrome 1 unknown Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Completed Suicide The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs36... BeFree 19115052 Detail
<0.001 Completed Suicide The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs36... BeFree 19115052 Detail
<0.001 Completed Suicide The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs36... BeFree 19115052 Detail
0.327 Diabetes Mellitus, Non-Insulin-Dependent Association of rs734312 and rs10010131 polymorphisms in WFS1 gene with type 2 di... BeFree 23257691 Detail
0.327 Diabetes Mellitus, Non-Insulin-Dependent A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs... BeFree 21713316 Detail
0.005 Headache The wolframin His611Arg polymorphism influences medication overuse headache. BeFree 17719176 Detail
<0.001 psychiatric hospitalization Wolframin gene polymorphisms, including the H611R polymorphism, are reportedly a... BeFree 19328217 Detail
0.004 Diabetes The rs734312 from WFS1 gene was associated with diabetes at genotype level (P&lt... BeFree 24477584 Detail
0.010 Mood Disorders No association between wolframin gene H611R polymorphism and mood disorders: evi... BeFree 25074416 Detail
0.019 diabetes mellitus The rs734312 from WFS1 gene was associated with diabetes at genotype level (P&lt... BeFree 24477584 Detail
0.010 Mood Disorders Wolframin gene H611R polymorphism: no direct association with suicidal behavior ... BeFree 19328217 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) AND not specified ClinVar Detail
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) AND Autosomal dominant nonsyndromic hearing loss 6 ClinVar Detail
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) AND WFS1-Related Spectrum Disorders ClinVar Detail
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) AND Wolfram syndrome 1 ClinVar Detail
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) AND not provided ClinVar Detail
The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, an... DisGeNET Detail
The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, an... DisGeNET Detail
The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, an... DisGeNET Detail
Association of rs734312 and rs10010131 polymorphisms in WFS1 gene with type 2 diabetes mellitus: a m... DisGeNET Detail
A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs734312 shows a prote... DisGeNET Detail
The wolframin His611Arg polymorphism influences medication overuse headache. DisGeNET Detail
Wolframin gene polymorphisms, including the H611R polymorphism, are reportedly associated with mood ... DisGeNET Detail
The rs734312 from WFS1 gene was associated with diabetes at genotype level (P&lt;0.01). DisGeNET Detail
No association between wolframin gene H611R polymorphism and mood disorders: evidence from 2,570 sub... DisGeNET Detail
The rs734312 from WFS1 gene was associated with diabetes at genotype level (P&lt;0.01). DisGeNET Detail
Wolframin gene H611R polymorphism: no direct association with suicidal behavior but possible link to... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs734312 dbSNP
Genome
hg38
Position
chr4:6,301,627-6,301,627
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
168.13
Standard deviation of sample read depth (HGVD)
75.78
Number of reference allele (HGVD)
363
Number of alternative allele (HGVD)
2057
Allele Frequency (HGVD)
0.85
Gene Symbol (HGVD)
WFS1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs734312
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8655
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14505
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
7226
East Asian Heterozygous Counts (ExAC)
1172
East Asian Homozygous Counts (ExAC)
3027
East Asian Allele Frequency (ExAC)
0.8363425925925926
Chromosome Counts in All Race (ExAC)
121340
Allele Counts in All Race (ExAC)
65123
Heterozygous Counts in All Race (ExAC)
27131
Homozygous Counts in All Race (ExAC)
18996
Allele Frequency in All Race (ExAC)
0.5366985330476347
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