RGD:11653216 Rat Genome Database

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Variant: RGD:11653216 -  Homo sapiens

RGD ID: 11653216
RS ID: rs886048269
ClinVar ID: CV320491
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAG2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 36,614,063
GRCh38 11 36,592,513
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_99:g.10724T>C
NG_007573.1:g.10724T>C
NC_000011.10:g.36592513A>G
NC_000011.9:g.36614063A>G
More... 		06/14/2016 3 prime utr variant uncertain significance infancy <1 / 1 000 000 Bubble boy disease; Omenn syndrome; Reticuloendotheliosis familial with eosinophilia; Severe Combined Immune Deficiency; Severe combined immunodeficiency; Severe combined immunodeficiency with hypereosinophilia
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RAG2
Accession:NM_001243785
Location:3UTRS;EXON

Gene Symbol:RAG2
Accession:XM_047427385
Location:3UTRS;EXON

Gene Symbol:RAG2
Accession:NM_000536
Location:3UTRS;EXON

Gene Symbol:RAG2
Accession:XM_047427386
Location:3UTRS;EXON

Gene Symbol:RAG2
Accession:NM_001243786
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000391484 CLINVAR
  RCV001731588 CLINVAR
dbSNP (RS) rs886048269 CLINVAR
MedGen C0085110 CLINVAR
  C2700553 CLINVAR
NCBI Gene RAG2 CLINVAR
OMIM 179616 CLINVAR
  603554 CLINVAR
SNOMED CT 307650006 CLINVAR
  31323000 CLINVAR