Variant #0000719948 (NC_000004.11:g.6290815C>G, WFS1(NM_006005.3):c.417C>G)

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.6290815C>G
DNA change (hg38) -
Published as WFS1(NM_001145853.1):c.417C>G (p.(Arg139=)), WFS1(NM_006005.3):c.417C>G (p.R139=)
ISCN -
DB-ID WFS1_000805 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WFS1 NM_006005.3 -?/. - c.417C>G r.(?) p.(Arg139=)