RGD:150429574 Rat Genome Database

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Variant: RGD:150429574 -  Homo sapiens

RGD ID: 150429574
ClinVar ID: CV1189386
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RG  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 70,330,490
GRCh38 X 71,110,640
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.318A>G
LRG_150:g.5914A>G
NG_021141.1:g.1149A>G
NG_009088.1:g.5914A>G
More... 		01/15/2022 synonymous variant conflicting interpretations of pathogenicity|uncertain significance 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL2RG
Accession:NM_000206
Location:EXON
Amino Acid Prediction: L to L (synonymous)

Gene Symbol:IL2RG
Accession:XM_047442089
Location:EXON
Amino Acid Prediction: L to L (synonymous)

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001563866 CLINVAR
  RCV001563867 CLINVAR
MedGen C1279481 CLINVAR
  CN030319 CLINVAR
NCBI Gene IL2RG CLINVAR
OMIM 300400 CLINVAR
  308380 CLINVAR
  312863 CLINVAR
SNOMED CT 203592006 CLINVAR