RGD:126734293 Rat Genome Database

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Variant: RGD:126734293 -  Homo sapiens

RGD ID: 126734293
RS ID: rs2039383036
ClinVar ID: CV1021897
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDHA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 41,928,676
GRCh38 19 41,422,771
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.41422771G>A
NC_000019.9:g.41928676G>A
NM_000709.4:c.995+1G>A
NG_013004.1:g.29983G>A
More... 		05/22/2022 splice donor variant pathogenic|likely pathogenic Keto acid decarboxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCKDHA
Accession:NM_001164783
Location:INTRON

Gene Symbol:BCKDHA
Accession:NM_000709
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:16786533   PMID:22593002   PMID:28492532   PMID:31980395  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002642394 CLINVAR
dbSNP (RS) rs2039383036 CLINVAR
MedGen C0024776 CLINVAR
NCBI Gene BCKDHA CLINVAR
OMIM 248600 CLINVAR
  608348 CLINVAR
SNOMED CT 27718001 CLINVAR