RGD:11603010 Rat Genome Database

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Variant: RGD:11603010 -  Homo sapiens

RGD ID: 11603010
RS ID: rs7740958
ClinVar ID: CV304346
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDHB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 81,055,413
GRCh38 6 80,345,696
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NC_000006.12:g.80345696T>C
NC_000006.11:g.81055413T>C
NM_183050.2:c.*1892T>C
NM_000056.5:c.*9-279T>C
More...
06/14/2016 3 prime utr variant benign 1-9 / 1 000 000 Keto acid decarboxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCKDHB
Accession:NM_183050
Location:3UTRS;EXON

Gene Symbol:BCKDHB
Accession:NM_001318975
Location:3UTRS;EXON

Gene Symbol:BCKDHB
Accession:XM_047419214
Location:3UTRS;EXON

Gene Symbol:BCKDHB
Accession:NM_000056
Location:3UTRS;INTRON

Gene Symbol:BCKDHB
Accession:XM_047419207
Location:3UTRS;INTRON

Gene Symbol:
Accession:
Location:3UTRS;INTRON

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

Gene Symbol:BCKDHB
Accession:XM_005248756
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419211
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419212
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419210
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419213
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000295762 CLINVAR
dbSNP (RS) rs7740958 CLINVAR
MedGen C0024776 CLINVAR
NCBI Gene BCKDHB CLINVAR
OMIM 248600 CLINVAR
  248611 CLINVAR
SNOMED CT 27718001 CLINVAR