chr4:6303033:C>T Detail (hg19) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,303,033-6,303,033
hg38 chr4:6,301,306-6,301,306 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.1511C>T NP_001139325.1:p.Pro504Leu
NM_006005.3:c.1511C>T NP_005996.2:p.Pro504Leu
Ensemble ENST00000226760.5:c.1511C>T ENST00000226760.5:p.Pro504Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 tgv15958361 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-10-09 criteria provided, single submitter Wolfram syndrome 1 germline Detail
Pathogenic Likely pathogenic 2023-10-05 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-09-28 criteria provided, single submitter Wolfram syndrome 1,Wolfram-like syndrome germline Detail
Pathogenic 2021-09-28 criteria provided, single submitter Wolfram syndrome 1,Wolfram-like syndrome germline Detail
Pathogenic 2022-04-17 criteria provided, single submitter Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus,Autosomal dominant nonsyndromic hearing loss 6,Wolfram-like syndrome unknown Detail
Pathogenic 2022-04-17 criteria provided, single submitter Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus,Autosomal dominant nonsyndromic hearing loss 6,Wolfram-like syndrome unknown Detail
Pathogenic 2022-04-17 criteria provided, single submitter Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus,Autosomal dominant nonsyndromic hearing loss 6,Wolfram-like syndrome unknown Detail
Pathogenic 2022-04-17 criteria provided, single submitter Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus,Autosomal dominant nonsyndromic hearing loss 6,Wolfram-like syndrome unknown Detail
Pathogenic 2022-04-17 criteria provided, single submitter Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus,Autosomal dominant nonsyndromic hearing loss 6,Wolfram-like syndrome unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.626 Wolfram syndrome NA CLINVAR Detail
0.626 Wolfram syndrome Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. UNIPROT 11161832 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) AND Wolfram syndrome 1 ClinVar Detail
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) AND not provided ClinVar Detail
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. 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
rs28937892 dbSNP
Genome
hg19
Position
chr4:6,303,033-6,303,033
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
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)
121212
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.95000495000495E-5
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