RGD:11608082 Rat Genome Database

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Variant: RGD:11608082 -  Homo sapiens

RGD ID: 11608082
RS ID: rs542630714
ClinVar ID: CV309063
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDHB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 81,054,442
GRCh38 6 80,344,725
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.80344725C>T
NC_000006.11:g.81054442C>T
NM_183050.2:c.*921C>T
NM_000056.5:c.*8+913C>T
More... 		06/14/2016 3 prime utr variant uncertain significance 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_001424039
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_001424043
Location:3UTRS;EXON

Gene Symbol:BCKDHB
Accession:NM_183050
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;INTRON

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

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

Gene Symbol:BCKDHB
Accession:NM_001424036
Location:3UTRS;INTRON

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

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

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

Gene Symbol:BCKDHB
Accession:XM_005248756
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419212
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424035
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424038
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419211
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424045
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419213
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424040
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424041
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424037
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419210
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424042
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424044
Location:INTRON

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

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_187565
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000350925 CLINVAR
dbSNP (RS) rs542630714 CLINVAR
MedGen C0024776 CLINVAR
NCBI Gene BCKDHB CLINVAR
OMIM 248600 CLINVAR
  248611 CLINVAR
SNOMED CT 27718001 CLINVAR