RGD:8556773 Rat Genome Database

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Variant: RGD:8556773 -  Homo sapiens

RGD ID: 8556773
RS ID: rs137852873
ClinVar ID: CV17418
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDHA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 41,928,215
GRCh38 19 41,422,310
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013004.1:g.29522C>T
NC_000019.10:g.41422310C>T
NC_000019.9:g.41928215C>T
NP_001158255.1:p.Arg265Trp
More...
11/07/2021 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance Keto acid decarboxylase deficiency; MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA; MAPLE SYRUP URINE DISEASE, TYPE IA; MSUD type 1A; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCKDHA
Accession:NM_000709
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYR
VMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYRE
AGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGA
ASEGDAHAGFNFAATLECPIIFFCWNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAE
NQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERK
PKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK*

Gene Symbol:BCKDHA
Accession:NM_001164783
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYR
VMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYRE
AGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGA
ASEGDAHAGFNFAATLECPIIFFCWNNGYAISTPTSEQYRGDGIARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAEN
QPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKP
KPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK*

Variant Samples
Additional References at PubMed
PMID:9582350   PMID:11069910   PMID:25741868   PMID:28492532   PMID:31112740  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000002478 CLINVAR
  RCV000393620 CLINVAR
  RCV001379690 CLINVAR
dbSNP (RS) rs137852873 CLINVAR
MedGen C0024776 CLINVAR
  C2930989 CLINVAR
  C3661900 CLINVAR
NCBI Gene BCKDHA CLINVAR
OMIM 248600 CLINVAR
  608348 CLINVAR
OMIM Allele 608348.0005 CLINVAR
SNOMED CT 27718001 CLINVAR