RGD:8595564 Rat Genome Database

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Variant: RGD:8595564 -  Homo sapiens

RGD ID: 8595564
RS ID: rs121908739
ClinVar ID: CV17004
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 43,255,139
GRCh38 20 44,626,498
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.30238T>C
NG_007385.1:g.30238T>C
NC_000020.11:g.44626498A>G
NC_000020.10:g.43255139A>G
More... 		09/16/2019 missense|missense variant pathogenic|likely pathogenic neonatal/infancy 1-9 / 1 000 000 ADA deficiency; ADA-SCID; Adenosine deaminase deficient severe combined immunodeficiency; Bubble boy disease; none provided; SCID DUE TO ADA DEFICIENCY, EARLY-ONSET; Severe Combined Immune Deficiency; Severe combined immunodeficiency; Severe combined immunodeficiency due to ADA deficiency; Severe combined immunodeficiency due to adenosine deaminase deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ADA
Accession:NM_001322050
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWRCGTVRTCRPTPKWSQSPGTRLNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHA
GEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTD
DPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL*

Gene Symbol:ADA
Accession:NM_001322051
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIK
RIAYEFVEMKAKEGVVYVEVRYSPHLPANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPW
SSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELL
DLLYKAYGMPPSASAGQNL*

Gene Symbol:ADA
Accession:NM_000022
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIK
RIAYEFVEMKAKEGVVYVEVRYSPHLPANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGY
HTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEE
EFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL*

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

Variant Samples
Additional References at PubMed
PMID:2166947   PMID:2758612   PMID:7599635   PMID:9225964   PMID:9361033   PMID:9758612   PMID:25741868   PMID:27129325   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000002042 CLINVAR
  RCV000255602 CLINVAR
  RCV001731270 CLINVAR
dbSNP (RS) rs121908739 CLINVAR
MedGen C0085110 CLINVAR
  C1863236 CLINVAR
  C3661900 CLINVAR
NCBI Gene ADA CLINVAR
OMIM 102700 CLINVAR
  608958 CLINVAR
OMIM Allele 608958.0013 CLINVAR
SNOMED CT 31323000 CLINVAR