RGD:11075180 Rat Genome Database

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Variant: RGD:11075180 -  Homo sapiens

RGD ID: 11075180
ClinVar ID: CV227111
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,329,165
GRCh38 X 71,109,315
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_150t1:c.670C>T
LRG_150:g.7239C>T
NG_009088.1:g.7239C>T
NC_000023.11:g.71109315G>A
More... 		07/20/2022 missense variant pathogenic|likely pathogenic neonatal 1-9 / 100 000 IMMUNODEFICIENCY 4; IMMUNODEFICIENCY 6; none provided; 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: R to W (nonsynonymous)

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

Variant Samples
Additional References at PubMed
PMID:9049783   PMID:9058718   PMID:9633906   PMID:10792291   PMID:21184155   PMID:25741868   PMID:28492532   PMID:28747913  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000210828 CLINVAR
  RCV000255579 CLINVAR
  RCV000853368 CLINVAR
dbSNP (RS) rs869320658 CLINVAR
MedGen C1279481 CLINVAR
  CN030319 CLINVAR
  CN517202 CLINVAR
NCBI Gene IL2RG CLINVAR
OMIM 300400 CLINVAR
  308380 CLINVAR
  312863 CLINVAR
SNOMED CT 203592006 CLINVAR