Variant #0000809777 (NC_000023.10:g.107977529dup, IRS4(NM_003604.2):c.2046dup)

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.107977529dup
DNA change (hg38) -
Published as IRS4(NM_003604.2):c.2046dupA (p.A683Sfs*11)
ISCN -
DB-ID IRS4_000047
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) Retrieve
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2021-09-17 14:40:49 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IRS4 NM_003604.2 +/. - c.2046dup r.(?) p.(Ala683Serfs*11)