RGD:13813393 Rat Genome Database

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Variant: RGD:13813393 -  Homo sapiens

RGD ID: 13813393
RS ID: rs1569480047
ClinVar ID: CV575443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,330,538
GRCh38 X 71,110,688
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000206.2:c.270G>A
NM_000206.3:c.270G>A
NP_000197.1:p.Trp90Ter
NC_000023.11:g.71110688C>T
More... 		02/05/2018 nonsense pathogenic IMMUNODEFICIENCY 4; 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:INTRON

Gene Symbol:IL2RG
Accession:XM_047442089
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000690121 CLINVAR
dbSNP (RS) rs1569480047 CLINVAR
MedGen C1279481 CLINVAR
NCBI Gene IL2RG CLINVAR
OMIM 300400 CLINVAR
  308380 CLINVAR
SNOMED CT 203592006 CLINVAR