Variant #0000003223 (NC_000023.11:g.70327716T>C, NM_000206.3:c.980A>G (IL2RG))

Individual ID 00000832
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.70327716T>C
Published as IL2RG c.270-2A>T
Reference Intan Juliana Abd Hamid et al. (2020)
DB-ID IL2RG_000003
dbSNP ID rs1064794631
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 2021-08-15 10:45:57 +08:00 (CST)
Date last edited 2022-01-25 09:34:50 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
IL2RG NM_000206.3 ?/. - c.980A>G IL2RG c.270-2A>T r.(?) p.(Glu327Gly) ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000942 DNA ? IL2RG 2 Noorzalifah Binti Mazuki