RGD:11618322 Rat Genome Database

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Variant: RGD:11618322 -  Homo sapiens

RGD ID: 11618322
RS ID: rs36216718
ClinVar ID: CV335560
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC107303343  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 43,280,349
GRCh38 20 44,651,708
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.5028G>A
NG_007385.1:g.5028G>A
NC_000020.11:g.44651708C>T
NC_000020.10:g.43280349C>T
More... 		07/07/2018 5 prime utr variant benign|likely benign infancy 1-9 / 1 000 000 ADA deficiency; ADA-SCID; Adenosine deaminase deficient severe combined immunodeficiency; none provided; 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 Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000312578 CLINVAR
  RCV001653635 CLINVAR
dbSNP (RS) rs36216718 CLINVAR
MedGen C1863236 CLINVAR
  C3661900 CLINVAR
NCBI Gene ADA CLINVAR
  LOC107303343 CLINVAR
OMIM 102700 CLINVAR
  608958 CLINVAR