RGD:127290308 Rat Genome Database

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Variant: RGD:127290308 -  Homo sapiens

RGD ID: 127290308
RS ID: rs780518207
ClinVar ID: CV1128493
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 43,252,921
GRCh38 20 44,624,280
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.123C>T
NG_007385.1:g.32456C>T
NC_000020.11:g.44624280G>A
NC_000020.10:g.43252921G>A
More... 		11/25/2020 non-coding transcript variant likely benign 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:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWRCGTVRTCWPTPKWSQSPGTRLNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHA
GEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTD
DPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL*

Gene Symbol:ADA
Accession:NM_001322051
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIK
RIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPW
SSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELL
DLLYKAYGMPPSASAGQNL*

Gene Symbol:ADA
Accession:NM_000022
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIK
RIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGY
HTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEE
EFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001451190 CLINVAR
dbSNP (RS) rs780518207 CLINVAR
MedGen C1863236 CLINVAR
NCBI Gene ADA CLINVAR
OMIM 102700 CLINVAR
  608958 CLINVAR