RGD:14698315 Rat Genome Database

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Variant: RGD:14698315 -  Homo sapiens

RGD ID: 14698315
RS ID: rs1209280928
ClinVar ID: CV623167
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADA  LOC107303343  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 43,264,919
GRCh38 20 44,636,278
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_16t1:c.44A>T
LRG_16:g.20458A>T
NG_007385.1:g.20458A>T
NP_000013.2:p.His15Leu
More... 		12/17/2021 5 prime utr 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_001322050
Location:5UTRS;EXON

Gene Symbol:ADA
Accession:NM_001322051
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQTPAFDKPKVELLVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIK
RIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPW
SSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELL
DLLYKAYGMPPSASAGQNL*

Gene Symbol:ADA
Accession:NM_000022
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQTPAFDKPKVELLVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIK
RIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGY
HTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEE
EFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL*

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

Variant Samples
Additional References at PubMed
PMID:7599635   PMID:9758612   PMID:25741868   PMID:26376800   PMID:27129325   PMID:28492532   PMID:31319225  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000790400 CLINVAR
dbSNP (RS) rs1209280928 CLINVAR
MedGen C1863236 CLINVAR
NCBI Gene 107303343 CLINVAR
  ADA CLINVAR
OMIM 102700 CLINVAR
  608958 CLINVAR