chr4:6301849:G>A Detail (hg38) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,303,576-6,303,576 View the variant detail on this assembly version.
hg38 chr4:6,301,849-6,301,849

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.2054G>A NP_001139325.1:p.Arg685His
NM_006005.3:c.2054G>A NP_005996.2:p.Arg685His
Ensemble ENST00000226760.5:c.2054G>A ENST00000226760.5:p.Arg685His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv15958629 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-10-13 criteria provided, conflicting interpretations not provided germline Detail
Likely pathogenic 2021-04-12 criteria provided, single submitter germline Detail
Uncertain significance 2021-10-26 criteria provided, single submitter Wolfram-like syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 DEAFNESS, AUTOSOMAL DOMINANT 6 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) AND not provided ClinVar Detail
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) AND Hearing impairment ClinVar Detail
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) AND Wolfram-like syndrome ClinVar Detail
NA 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
rs142668478 dbSNP
Genome
hg38
Position
chr4:6,301,849-6,301,849
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs142668478
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8616
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120690
Allele Counts in All Race (ExAC)
17
Heterozygous Counts in All Race (ExAC)
17
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.4085674040931312E-4
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