RGD:11631626 Rat Genome Database

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Variant: RGD:11631626 -  Homo sapiens

RGD ID: 11631626
RS ID: rs560858565
ClinVar ID: CV350014
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 43,248,323
GRCh38 20 44,619,682
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_16:g.37054C>T
NG_007385.1:g.37054C>T
NC_000020.11:g.44619682G>A
NC_000020.10:g.43248323G>A
More... 		06/14/2016 3 prime utr variant uncertain significance infancy 1-9 / 1 000 000 ADA deficiency; ADA-SCID; Adenosine deaminase deficient severe combined immunodeficiency; SCID DUE TO ADA DEFICIENCY, EARLY-ONSET; Severe combined immunodeficiency due to ADA deficiency; Severe combined immunodeficiency due to adenosine deaminase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ADA
Accession:NM_000022
Location:3UTRS;EXON

Gene Symbol:ADA
Accession:NM_001322050
Location:3UTRS;EXON

Gene Symbol:ADA
Accession:NM_001322051
Location:3UTRS;EXON

Gene Symbol:ADA
Accession:NR_136160
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000384135 CLINVAR
dbSNP (RS) rs560858565 CLINVAR
MedGen C1863236 CLINVAR
NCBI Gene ADA CLINVAR
OMIM 102700 CLINVAR
  608958 CLINVAR