Genomic variant #0000577183

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70328450G>A
DNA change (hg38) -
Published as IL2RG(NM_000206.2):c.853C>T (p.(Arg285Trp))
ISCN -
DB-ID IL2RG_000016
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) 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.853C>T VUS r.(?) p.(Arg285Trp)
CXorf65 NM_001025265.2 ?/. - c.-2044C>T VUS r.(?) p.(=)