RGD:150425562 Rat Genome Database

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Variant: RGD:150425562 -  Homo sapiens

RGD ID: 150425562
RS ID: rs77952351
ClinVar ID: CV1183887
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDHB  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 80,910,904
GRCh38 6 80,201,187
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318975.1:c.630+156T>G
NM_000056.5:c.840+156T>G
NM_183050.4:c.840+156T>G
NG_009775.2:g.99561T>G
More... 		03/29/2019 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:BCKDHB
Accession:NM_001424035
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424039
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419212
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424043
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424041
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_183050
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419210
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_005248756
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419214
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424044
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_000056
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001318975
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424036
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424045
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419211
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424042
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419213
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424037
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424038
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419207
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424040
Location:INTRON

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001558164 CLINVAR
dbSNP (RS) rs77952351 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene BCKDHB CLINVAR
OMIM 248611 CLINVAR