RGD:38474053 Rat Genome Database

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Variant: RGD:38474053 -  Homo sapiens

RGD ID: 38474053
RS ID: rs2057409516
ClinVar ID: CV927784
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDK  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 31,122,488
GRCh38 16 31,111,167
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001271926.3:c.793A>C
NM_001122957.4:c.793A>C
NC_000016.9:g.31122488A>C
NG_033011.1:g.7874A>C
More... 		05/06/2019 missense variant uncertain significance BCKDK DEFICIENCY
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 L (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGR
SQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLD
DHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARR
LCEHKYGNAPRVRINGHVAARFPFLPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGI
AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHG*

Gene Symbol:BCKDK
Accession:NM_005881
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGR
SQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLD
DHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARR
LCEHKYGNAPRVRINGHVAARFPFLPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGI
AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHGFGFGLPTSRAYAEYLGGSLQLQSLQGIGTDVYLRL
RHIDGREESFRI*

Gene Symbol:BCKDK
Accession:NM_001271926
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGR
SQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLD
DHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARR
LCEHKYGNAPRVRINGHVAARFPFLPMPLDYILPELLKNAMRISDRGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFG
HLDMHSGAQSGPMHG*

Gene Symbol:BCKDK
Accession:XM_017022859
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGR
SQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLD
DHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARR
LCEHKYGNAPRVRINGHVAARFPFLPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGI
AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHGLQPQVRTENQELQDCRTLNIQLAGPRGRPQKPIGS
CYITDPALKP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001214578 CLINVAR
dbSNP (RS) rs2057409516 CLINVAR
MedGen C3554078 CLINVAR
NCBI Gene BCKDK CLINVAR
OMIM 614901 CLINVAR
  614923 CLINVAR