RGD:38461418 Rat Genome Database

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Variant: RGD:38461418 -  Homo sapiens

RGD ID: 38461418
RS ID: rs2039405116
ClinVar ID: CV920408
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDHA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 41,930,342
GRCh38 19 41,424,437
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164783.2:c.1165-1G>A
NM_000709.4:c.1168-1G>A
NG_013004.1:g.31649G>A
NM_000709.3:c.1168-1G>A
More... 		01/20/2022 splice acceptor variant likely pathogenic Keto acid decarboxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCKDHA
Accession:NM_000709
Location:INTRON

Gene Symbol:BCKDHA
Accession:NM_001164783
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001197612 CLINVAR
dbSNP (RS) rs2039405116 CLINVAR
MedGen C0024776 CLINVAR
NCBI Gene BCKDHA CLINVAR
OMIM 248600 CLINVAR
  608348 CLINVAR
SNOMED CT 27718001 CLINVAR