RGD:150331817 Rat Genome Database

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Variant: RGD:150331817 -  Homo sapiens

RGD ID: 150331817
RS ID: rs150651504
ClinVar ID: CV1169208
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDHB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 80,983,038
GRCh38 6 80,273,321
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009775.2:g.171695T>C
NC_000006.12:g.80273321T>C
NC_000006.11:g.80983038T>C
NM_183050.4:c.1038+100T>C
More... 		09/14/2019 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:BCKDHB
Accession:NM_001424041
Location:3UTRS;EXON

Gene Symbol:BCKDHB
Accession:NR_187565
Location:EXON;NON-CODING

Gene Symbol:BCKDHB
Accession:NR_187563
Location:EXON;NON-CODING

Gene Symbol:BCKDHB
Accession:NM_000056
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424043
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_183050
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424042
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419214
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419207
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424037
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001318975
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424040
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424038
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419210
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419213
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424035
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419211
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424036
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424039
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419212
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424044
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_005248756
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424045
Location:INTRON

Gene Symbol:BCKDHB
Accession:NR_187561
Location:INTRON;NON-CODING

Gene Symbol:BCKDHB
Accession:XR_001743546
Location:INTRON;NON-CODING

Gene Symbol:BCKDHB
Accession:NR_187562
Location:INTRON;NON-CODING

Gene Symbol:BCKDHB
Accession:NR_187564
Location:INTRON;NON-CODING

Gene Symbol:BCKDHB
Accession:NR_134945
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001536638 CLINVAR
dbSNP (RS) rs150651504 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene BCKDHB CLINVAR
OMIM 248611 CLINVAR