chr4:6304170:TCTT> Detail (hg19) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,304,170-6,304,173
hg38 chr4:6,302,443-6,302,446 

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.2648_2651delTCTT NP_001139325.1:p.Phe883SerfsTer68
NM_006005.3:c.2648_2651delTCTT NP_005996.2:p.Phe883SerfsTer68
Ensemble ENST00000226760.5:c.2648_2651delTCTT ENST00000226760.5:p.Phe883SerfsTer68
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2022-09-08 criteria provided, multiple submitters, no conflicts Wolfram syndrome 1 germline paternal unknown Detail
Pathogenic 2023-12-04 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-06-30 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 6,cataract 41,Wolfram-like syndrome,type 2 diabetes mellitus,Wolfram syndrome 1 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 6,cataract 41,Wolfram-like syndrome,type 2 diabetes mellitus,Wolfram syndrome 1 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 6,cataract 41,Wolfram-like syndrome,type 2 diabetes mellitus,Wolfram syndrome 1 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 6,cataract 41,Wolfram-like syndrome,type 2 diabetes mellitus,Wolfram syndrome 1 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 6,cataract 41,Wolfram-like syndrome,type 2 diabetes mellitus,Wolfram syndrome 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.626 Wolfram syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) AND Wolfram syndrome 1 ClinVar Detail
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) AND not provided ClinVar Detail
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) AND multiple conditions 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
rs797045076 dbSNP
Genome
hg19
Position
chr4:6,304,170-6,304,173
Variant Type
snv
Reference Allele
TCTT
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8552
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)
118898
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.887399283419401E-5
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