Variant #0000522808 (NC_000004.11:g.6290761C>T, WFS1(NM_006005.3):c.363C>T)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.6290761C>T
DNA change (hg38) g.6289034C>T
Published as WFS1(NM_006005.3):c.363C>T (p.L121=)
ISCN -
DB-ID WFS1_000401
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00018 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WFS1 NM_006005.3 -?/. - c.363C>T r.(?) p.(Leu121=)