RGD:126741435 Rat Genome Database

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Variant: RGD:126741435 -  Homo sapiens

RGD ID: 126741435
ClinVar ID: CV1019051
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RG  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,330,746
GRCh38 X 71,110,896
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_150t1:c.269+1G>T
NM_000206.3:c.269+1G>T
LRG_150:g.5658G>T
NG_009088.1:g.5658G>T
More... 		10/30/2021 splice donor variant pathogenic|likely 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:INTRON
Amino Acid Prediction: to ()

Gene Symbol:IL2RG
Accession:XM_047442089
Location:INTRON
Amino Acid Prediction: to ()

Variant Samples
Additional References at PubMed
PMID:9058718   PMID:10794430   PMID:16199547   PMID:25741868   PMID:28492532   PMID:33628209  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001329693 CLINVAR
  RCV001863206 CLINVAR
dbSNP (RS) rs2092262300 CLINVAR
MedGen C1279481 CLINVAR
  CN030319 CLINVAR
NCBI Gene IL2RG CLINVAR
OMIM 300400 CLINVAR
  308380 CLINVAR
  312863 CLINVAR
SNOMED CT 203592006 CLINVAR