RGD:8595559 Rat Genome Database

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Variant: RGD:8595559 -  Homo sapiens

RGD ID: 8595559
RS ID: rs121908715
ClinVar ID: CV16998
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 43,249,032
GRCh38 20 44,620,391
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.36345C>T
NG_007385.1:g.36345C>T
NC_000020.11:g.44620391G>A
NC_000020.10:g.43249032G>A
More... 		06/03/2019 missense|missense variant pathogenic|likely pathogenic neonatal/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; SCID, AR, T-cell negative, B-cell negative, NK cell-positive; SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE; Severe combined immunodeficiency due to ADA deficiency; Severe combined immunodeficiency due to adenosine deaminase deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

Variant Details
Variant Transcripts
Gene Symbol:ADA
Accession:NM_000022
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 329
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIK
RIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGY
HTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEE
EFKRLNINVAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL*

Gene Symbol:ADA
Accession:NM_001322051
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIK
RIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPW
SSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINVAKSSFLPEDEKRELL
DLLYKAYGMPPSASAGQNL*

Gene Symbol:ADA
Accession:NM_001322050
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWRCGTVRTCWPTPKWSQSPGTRLNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHA
GEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTD
DPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINVAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL*

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

Variant Samples
Additional References at PubMed
PMID:1346349   PMID:2651461   PMID:2773932   PMID:3182793   PMID:3475710   PMID:8401541   PMID:8614422   PMID:9758612   PMID:25326637   PMID:25741868   PMID:26376800   PMID:26467025  
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000002036 CLINVAR
  RCV000373062 CLINVAR
  RCV001194143 CLINVAR
  RCV003944791 CLINVAR
dbSNP (RS) rs121908715 CLINVAR
MedGen C1832322 CLINVAR
  C1863236 CLINVAR
  C3661900 CLINVAR
NCBI Gene ADA CLINVAR
OMIM 102700 CLINVAR
  601457 CLINVAR
  608958 CLINVAR
OMIM Allele 608958.0006 CLINVAR