RGD:8640275 Rat Genome Database

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Variant: RGD:8640275 -  Homo sapiens

RGD ID: 8640275
RS ID: rs398123497
ClinVar ID: CV99259
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDHA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 41,916,730
GRCh38 19 41,410,825
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_013004.1:g.18037C>T
NC_000019.10:g.41410825C>T
NC_000019.9:g.41916730C>T
NM_000709.3:c.288+9C>T
More... 		09/16/2020 intron|intron variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance neonatal/infancy 1-9 / 1 000 000 Keto acid decarboxylase deficiency; MSUD type 1A; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCKDHA
Accession:NM_001164783
Location:INTRON

Gene Symbol:BCKDHA
Accession:NM_000709
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:20431954   PMID:25741868   PMID:28492532   PMID:31980395  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000175638 CLINVAR
  RCV000790795 CLINVAR
  RCV001275910 CLINVAR
dbSNP (RS) rs398123497 CLINVAR
MedGen C0024776 CLINVAR
  C2930989 CLINVAR
  C3661900 CLINVAR
NCBI Gene BCKDHA CLINVAR
OMIM 248600 CLINVAR
  608348 CLINVAR
SNOMED CT 27718001 CLINVAR