Genomic variant #0000577187

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70330483C>T
DNA change (hg38) -
Published as IL2RG(NM_000206.2):c.325G>A (p.E109K)
ISCN -
DB-ID IL2RG_000020
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00057 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
IL2RG NM_000206.2 -/. - c.325G>A benign r.(?) p.(Glu109Lys)
CXorf65 NM_001025265.2 -/. - c.-4077G>A benign r.(?) p.(=)