Variant #0000619822 (NC_000023.10:g.70327743G>A, CXorf65(NM_001025265.2):c.-1337C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.70327743G>A
DNA change (hg38) g.71107893G>A
Published as IL2RG(NM_000206.2):c.953C>T (p.(Ala318Val))
ISCN -
DB-ID IL2RG_000021
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) 3.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IL2RG NM_000206.2 -?/. - c.953C>T r.(?) p.(Ala318Val)
CXorf65 NM_001025265.2 -?/. - c.-1337C>T r.(?) p.(=)
FOXO4 NM_005938.3 -?/. - c.*5809G>A r.(=) p.(=)