RGD:8640268 Rat Genome Database

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Variant: RGD:8640268 -  Homo sapiens

RGD ID: 8640268
RS ID: rs34492894
ClinVar ID: CV99252
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDHA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 41,930,435
GRCh38 19 41,424,530
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_013004.1:g.31742C>T
NC_000019.10:g.41424530C>T
NC_000019.9:g.41930435C>T
NP_000700.1:p.Leu420=
More... 		09/16/2020 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity 1-9 / 1 000 000 AllHighlyPenetrant; Keto acid decarboxylase deficiency; MSUD type 1A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCKDHA
Accession:NM_000709
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 420
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYR
VMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYRE
AGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGA
ASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAE
NQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERK
PKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK*

Gene Symbol:BCKDHA
Accession:NM_001164783
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 419
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYR
VMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYRE
AGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGA
ASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAEN
QPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKP
KPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000079226 CLINVAR
  RCV000311470 CLINVAR
  RCV001275921 CLINVAR
dbSNP (RS) rs34492894 CLINVAR
MedGen C0024776 CLINVAR
  C2930989 CLINVAR
  CN169374 CLINVAR
NCBI Gene BCKDHA CLINVAR
OMIM 248600 CLINVAR
  608348 CLINVAR
SNOMED CT 27718001 CLINVAR