Variant #0000895872 (NC_000023.10:g.107976863T>C, IRS4(NM_003604.2):c.2712A>G)

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.107976863T>C
DNA change (hg38) -
Published as IRS4(NM_003604.2):c.2712A>G (p.K904=)
ISCN -
DB-ID IRS4_000049 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) Retrieve
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.2712A>G r.(?) p.(Lys904=)