RGD:150552051 Rat Genome Database

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Variant: RGD:150552051 -  Homo sapiens

RGD ID: 150552051
RS ID: rs760262095
ClinVar ID: CV1300836
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADA  LOC107303343  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 43,257,727
GRCh38 20 44,629,086
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_16t1:c.179A>G
NM_001322050.2:c.-111A>G
NM_000022.4:c.179A>G
NM_001322051.2:c.179A>G
More... 		09/28/2019 5 prime utr variant uncertain significance ADA deficiency; ADA-SCID; Adenosine deaminase deficient severe combined immunodeficiency; none provided; 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_000022
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPAFLAKFDYYMPAIAGCREAIK
RIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGY
HTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEE
EFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL*

Gene Symbol:ADA
Accession:NM_001322051
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPAFLAKFDYYMPAIAGCREAIK
RIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPW
SSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELL
DLLYKAYGMPPSASAGQNL*

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 RCV001754696 CLINVAR
  RCV002540350 CLINVAR
dbSNP (RS) rs760262095 CLINVAR
MedGen C1863236 CLINVAR
  C3661900 CLINVAR
NCBI Gene ADA CLINVAR
  LOC107303343 CLINVAR
OMIM 102700 CLINVAR
  608958 CLINVAR