Variant #0000639367 (NC_000004.11:g.6279306C>T, WFS1(NM_006005.3):c.124C>T)

Individual ID 00282475
Chromosome 4
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.6279306C>T
DNA change (hg38) g.6277579C>T
Published as -
ISCN -
DB-ID WFS1_000345 See all 6 reported entries
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Tranebjærg 1993, PubMed: Franks 2008, PubMed: Sandhu 2007, PubMed: Ohata 1998, PubMed: Duzkale 2013, PubMed: Fawcett 2010
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WFS1 NM_006005.3 ?/? 2 c.124C>T r.(?) p.(Arg42*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000283625 DNA ? - - WFS1 1 Global Variome, with Curator vacancy