Variant #0000639385 (NC_000004.11:g.6292974G>A, WFS1(NM_006005.3):c.511G>A)

Individual ID 00282493
Chromosome 4
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6292974G>A
DNA change (hg38) g.6291247G>A
Published as -
ISCN -
DB-ID WFS1_000530
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Gonçalves 2014
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00011 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 +/+ 5 c.511G>A r.(?) p.(Asp171Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000283643 DNA ? - - WFS1 1 Global Variome, with Curator vacancy