Variant #0000788362 (NC_000004.11:g.6290790T>G, WFS1(NM_006005.3):c.392T>G)

Individual ID 00375410
Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.6290790T>G
DNA change (hg38) g.6289063T>G
Published as T392G
ISCN -
DB-ID WFS1_000818 See all 3 reported entries
Variant remarks -
Reference PubMed: Katagiri 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WFS1 NM_006005.3 ?/. 4 c.392T>G r.(?) p.(Val131Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376607 DNA SEQ-NG - WES - 10 LOVD