RGD:9692717 Rat Genome Database

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Variant: RGD:9692717 -  Homo sapiens

RGD ID: 9692717
RS ID: rs727503823
ClinVar ID: CV177517
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDK  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 31,122,092
GRCh38 16 31,110,771
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033011.1:g.7478G>C
NC_000016.10:g.31110771G>C
NC_000016.9:g.31122092G>C
NM_005881.4:c.716+10G>C
More... 		02/28/2014 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:BCKDK
Accession:XM_017022859
Location:INTRON

Gene Symbol:BCKDK
Accession:NM_001122957
Location:INTRON

Gene Symbol:BCKDK
Accession:NM_001271926
Location:INTRON

Gene Symbol:BCKDK
Accession:NM_005881
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000152851 CLINVAR
dbSNP (RS) rs727503823 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene BCKDK CLINVAR
OMIM 614901 CLINVAR