Variant #0000248015 (NC_000004.11:g.6292915A>G, WFS1(NM_006005.3):c.461-9A>G)

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.6292915A>G
DNA change (hg38) g.6291188A>G
Published as WFS1(NM_006005.3):c.461-9A>G
ISCN -
DB-ID WFS1_000284 See all 4 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) 0.66067 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WFS1 NM_006005.3 -/. - c.461-9A>G r.(=) p.(=)