RGD:156264985 Rat Genome Database

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Variant: RGD:156264985 -  Homo sapiens

RGD ID: 156264985
ClinVar ID: CV1960823
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADA  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 43,252,842
GRCh38 20 44,624,201
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001322050.2:c.201+1G>T
NM_000022.4:c.606+1G>T
NM_001322051.2:c.606+1G>T
LRG_16:g.32535G>T
More... 		04/16/2022 splice donor variant likely pathogenic 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:INTRON

Gene Symbol:ADA
Accession:NM_001322051
Location:INTRON

Gene Symbol:ADA
Accession:NM_001322050
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:26255240   PMID:26376800   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002576974 CLINVAR
MedGen C1863236 CLINVAR
NCBI Gene ADA CLINVAR
OMIM 102700 CLINVAR
  608958 CLINVAR