Genomic variant #0000334557

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70331341G>T
DNA change (hg38) -
Published as IL2RG(NM_000206.2):c.49C>A (p.(Pro17Thr))
ISCN -
DB-ID IL2RG_000009
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.49C>A VUS r.(?) p.(Pro17Thr)
CXorf65 NM_001025265.2 ?/. - c.-4935C>A VUS r.(?) p.(=)