RGD:127321952 Rat Genome Database

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Variant: RGD:127321952 -  Homo sapiens

RGD ID: 127321952
ClinVar ID: CV1159801
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,328,194
GRCh38 X 71,108,344
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000206.3:c.857C>T
LRG_150:g.8210C>T
NG_021141.1:g.3445C>T
NG_009088.1:g.8210C>T
More... 		08/09/2021 missense variant benign|likely benign IMMUNODEFICIENCY 4; IMMUNODEFICIENCY 6; Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative; T-B+ severe combined immunodeficiency due to gamma chain deficiency; X-Linked Combined Immunodeficiency Diseases; X-linked severe combined immunodeficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL2RG
Accession:NM_000206
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)

Gene Symbol:IL2RG
Accession:XM_047442089
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001523301 CLINVAR
  RCV002506639 CLINVAR
MedGen C1279481 CLINVAR
  CN030319 CLINVAR
NCBI Gene IL2RG CLINVAR
OMIM 300400 CLINVAR
  308380 CLINVAR
  312863 CLINVAR
SNOMED CT 203592006 CLINVAR