RGD:11663864 Rat Genome Database

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Variant: RGD:11663864 -  Homo sapiens

RGD ID: 11663864
RS ID: rs886056709
ClinVar ID: CV335536
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADA  LOC107303343  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 43,280,258
GRCh38 20 44,651,617
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.5119C>G
NG_007385.1:g.5119C>G
NC_000020.11:g.44651617G>C
NC_000020.10:g.43280258G>C
More... 		06/14/2016 5 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_001322050
Location:5UTRS;EXON

Gene Symbol:ADA
Accession:NM_001322051
Location:5UTRS;EXON

Gene Symbol:ADA
Accession:NM_000022
Location:5UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000400336 CLINVAR
dbSNP (RS) rs886056709 CLINVAR
MedGen C1863236 CLINVAR
NCBI Gene ADA CLINVAR
  LOC107303343 CLINVAR
OMIM 102700 CLINVAR
  608958 CLINVAR