RGD:14740306 Rat Genome Database

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Variant: RGD:14740306 -  Homo sapiens

RGD ID: 14740306
RS ID: rs3810174
ClinVar ID: CV669927
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDHA  LOC127891598  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 41,904,165
GRCh38 19 41,398,260
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000709.4:c.108+325C>T
NM_001164783.2:c.108+325C>T
NG_013004.1:g.5472C>T
NC_000019.10:g.41398260C>T
More... 		06/19/2018 intron variant benign none provided

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

Gene Symbol:BCKDHA
Accession:NM_000709
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000840287 CLINVAR
dbSNP (RS) rs3810174 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene BCKDHA CLINVAR
OMIM 608348 CLINVAR