Variant #0000246252 (NC_000004.11:g.6290751A>C, WFS1(NM_006005.3):c.353A>C)

Chromosome 4
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.6290751A>C
DNA change (hg38) g.6289024A>C
Published as WFS1(NM_001145853.1):c.353A>C (p.(Asp118Ala)), WFS1(NM_006005.3):c.353A>C (p.D118A)
ISCN -
DB-ID WFS1_000379 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00063 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WFS1 NM_006005.3 -/. - c.353A>C r.(?) p.(Asp118Ala)