RGD:8598454 Rat Genome Database

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Variant: RGD:8598454 -  Homo sapiens

RGD ID: 8598454
ClinVar ID: CV25062
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RG  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,328,173
GRCh38 X 71,108,323
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_150t1:c.878T>A
LRG_150:g.8231T>A
NG_009088.1:g.8231T>A
NC_000023.11:g.71108323A>T
More... 		11/21/2019 2kb upstream variant|missense|missense variant pathogenic 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 Q (nonsynonymous)

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

Variant Samples
Additional References at PubMed
PMID:7883965   PMID:7973658   PMID:12126929   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000010706 CLINVAR
  RCV001038281 CLINVAR
dbSNP (RS) rs137852510 CLINVAR
MedGen C1279481 CLINVAR
  CN030319 CLINVAR
NCBI Gene IL2RG CLINVAR
OMIM 300400 CLINVAR
  308380 CLINVAR
  312863 CLINVAR
OMIM Allele 308380.0008 CLINVAR
SNOMED CT 203592006 CLINVAR