RGD:127329302 Rat Genome Database

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Variant: RGD:127329302 -  Homo sapiens

RGD ID: 127329302
RS ID: rs1374556799
ClinVar ID: CV1117221
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDHB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 80,837,259
GRCh38 6 80,127,542
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.-14-5C>T
NM_000056.5:c.197-5C>T
NM_183050.4:c.197-5C>T
NG_009775.2:g.25916C>T
More... 		03/17/2020 intron variant likely benign Keto acid decarboxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCKDHB
Accession:NM_001318975
Location:5UTRS;INTRON

Gene Symbol:BCKDHB
Accession:NM_001424043
Location:5UTRS;INTRON

Gene Symbol:BCKDHB
Accession:XM_047419214
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419210
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419207
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424037
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424045
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424042
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_183050
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424036
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424038
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424041
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419213
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419212
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424035
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424040
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424044
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_005248756
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BCKDHB
Accession:XM_047419211
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_000056
Location:INTRON

Gene Symbol:BCKDHB
Accession:NM_001424039
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_187562
Location:INTRON;NON-CODING

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001470113 CLINVAR
dbSNP (RS) rs1374556799 CLINVAR
MedGen C0024776 CLINVAR
NCBI Gene BCKDHB CLINVAR
OMIM 248600 CLINVAR
  248611 CLINVAR
SNOMED CT 27718001 CLINVAR