RGD:10053239 Rat Genome Database

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Variant: RGD:10053239 -  Homo sapiens

RGD ID: 10053239
RS ID: rs200689545
ClinVar ID: CV195993
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDK  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 31,122,058
GRCh38 16 31,110,737
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033011.1:g.7444T>C
NC_000016.10:g.31110737T>C
NC_000016.9:g.31122058T>C
NP_005872.2:p.Ile231Thr
More... 		12/30/2014 missense variant uncertain significance BCKDK DEFICIENCY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCKDK
Accession:NM_001122957
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGR
SQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLD
DHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKITEKWVDFARR
LCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGI
AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHG*

Gene Symbol:BCKDK
Accession:NM_001271926
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGR
SQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLD
DHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKITEKWVDFARR
LCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRISDRGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFG
HLDMHSGAQSGPMHG*

Gene Symbol:BCKDK
Accession:XM_017022859
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGR
SQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLD
DHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKITEKWVDFARR
LCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGI
AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHGLQPQVRTENQELQDCRTLNIQLAGPRGRPQKPIGS
CYITDPALKP*

Gene Symbol:BCKDK
Accession:NM_005881
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGR
SQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLD
DHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKITEKWVDFARR
LCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGI
AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHGFGFGLPTSRAYAEYLGGSLQLQSLQGIGTDVYLRL
RHIDGREESFRI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000180288 CLINVAR
  RCV001852244 CLINVAR
dbSNP (RS) rs200689545 CLINVAR
MedGen C3554078 CLINVAR
  C3661900 CLINVAR
NCBI Gene BCKDK CLINVAR
OMIM 614901 CLINVAR
  614923 CLINVAR