Genomic variant #0000346661

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70328486_70328487insTGATT
DNA change (hg38) -
Published as IL2RG(NM_000206.2):c.817_818insATCAA (p.Ile273fs)
ISCN -
DB-ID IL2RG_000010
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.817_818insATCAA pathogenic r.(?) p.(Ile273Asnfs*23)
CXorf65 NM_001025265.2 +/. - c.-2080_-2079insATCAA pathogenic r.(?) p.(=)