Genomic variant #0000577186

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70330480del
DNA change (hg38) -
Published as IL2RG(NM_000206.2):c.328del (p.(Glu110fs))
ISCN -
DB-ID IL2RG_000019
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.328del pathogenic r.(?) p.(Glu110Lysfs*37)
CXorf65 NM_001025265.2 +/. - c.-4074del pathogenic r.(?) p.(=)