Variant #0000719949 (NC_000004.11:g.6292945G>A, WFS1(NM_006005.3):c.482G>A)

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.6292945G>A
DNA change (hg38) -
Published as WFS1(NM_001145853.1):c.482G>A (p.(Arg161Gln)), WFS1(NM_006005.3):c.482G>A (p.R161Q)
ISCN -
DB-ID WFS1_000406 See all 3 reported entries
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) 0.00085 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.482G>A r.(?) p.(Arg161Gln)