RGD:28878032 Rat Genome Database

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Variant: RGD:28878032 -  Homo sapiens

RGD ID: 28878032
RS ID: rs749083860
ClinVar ID: CV882090
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDHA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 41,930,757
GRCh38 19 41,424,852
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.41424852C>T
NC_000019.9:g.41930757C>T
NM_000709.3:c.*244C>T
NG_013004.1:g.32064C>T
More... 		01/13/2018 3 prime utr variant uncertain significance Keto acid decarboxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCKDHA
Accession:NM_000709
Location:3UTRS;EXON

Gene Symbol:BCKDHA
Accession:NM_001164783
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001135020 CLINVAR
dbSNP (RS) rs749083860 CLINVAR
MedGen C0024776 CLINVAR
NCBI Gene BCKDHA CLINVAR
OMIM 248600 CLINVAR
  608348 CLINVAR
SNOMED CT 27718001 CLINVAR