Variant #0000003190 (NC_000023.11:g.71108276C>T, NC_000023.11(NM_000206.3):c.924+1G>A (IL2RG))

Individual ID 00000832
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.71108276C>T
Published as IL2RG
Reference Intan Juliana Abd Hamid et al. (2020),dbSNP
DB-ID IL2RG_000002
dbSNP ID rs886041333
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Noorzalifah Binti Mazuki
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Noorzalifah Binti Mazuki
Date created 2021-08-10 11:29:53 +08:00 (CST)
Date last edited 2022-01-25 09:34:50 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
IL2RG NM_000206.3 +/. - c.924+1G>A IL2RG r.spl? p.? ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000942 DNA ? IL2RG 2 Noorzalifah Binti Mazuki