Variant #0000278095 (NC_000023.10:g.107978343C>T, IRS4(NM_003604.2):c.1232G>A)

Chromosome X
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.107978343C>T
DNA change (hg38) g.108735113C>T
Published as IRS4(NM_003604.2):c.1232G>A (p.R411Q)
ISCN -
DB-ID IRS4_000013 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) 0.05422 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     
IRS4 NM_003604.2 -/. - c.1232G>A r.(?) p.(Arg411Gln)