Genomic variant #0000334556

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70330106A>C
DNA change (hg38) -
Published as IL2RG(NM_000206.2):c.494T>G (p.(Leu165Arg))
ISCN -
DB-ID IL2RG_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
IL2RG NM_000206.2 ?/. - c.494T>G VUS r.(?) p.(Leu165Arg)
CXorf65 NM_001025265.2 ?/. - c.-3700T>G VUS r.(?) p.(=)