RGD:10411535 Rat Genome Database

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Variant: RGD:10411535 -  Homo sapiens

RGD ID: 10411535
RS ID: rs139052284
ClinVar ID: CV211522
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDHX  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 34,982,013
GRCh38 11 34,960,466
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013368.1:g.49337C>A
NC_000011.10:g.34960466C>A
NC_000011.9:g.34982013C>A
NP_003468.2:p.Leu197Met
More... 		09/26/2023 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; E3-Binding Protein (Component X) Deficiency; LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX; none provided; PYRUVATE HYDROGENASE E3-BINDING PROTEIN DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDHX
Accession:XM_011520390
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSKNIRLGSLIGLIVEEGEDWKH
VEIPKDVGPPPPVSKPSEPRPSPEPQISIPVKKEHIPGTLRFRLSPAARNILEKHSMDASQGTATGPRGIFTKEDALKLV
QLKQTGKITESRPTPAPTATPTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFTEIPASNIRRVIAKRLTESKSTVPH
AYATADCDLGAVLKVRQDLVKDDIKVSVNDFIIKAAAVTLKQMPDVNVSWDGEGPKQLPFIDISVAVATDKGLLTPIIKD
AAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNLGMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAK
LQQRQLITVTMSSDSRVVDDELATRFLKSFKANLENPIRLA*

Gene Symbol:PDHX
Accession:NM_001135024
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSKNIRLGSLIGLIVEEGEDWKH
VEIPKDVGPPPPVSKPSEPRPSPEPQISIPVKKEHIPGTLRFRLSPAARNILEKHSMDASQGTATGPRGIFTKEDALKLV
QLKQTGKITESRPTPAPTATPTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFTEIPASNIRRVIAKRLTESKSTVPH
AYATADCDLGAVLKVRQDLVKDDIKVSVNDFIIKAAAVTLKQMPDVNVSWDGEGPKQLPFIDISVAVATDKGLLTPIIKD
AAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNLGMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAK
LQQRQLITVTMSSDSRVVDDELATRFLKSFKANLENPIRLA*

Gene Symbol:PDHX
Accession:NM_003477
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLRGDPIKILMPSLSPTMEEGNIVKWLKKE
GEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSKNIRLGSLIGLIVEEGEDWKHVEIPKDVGPPPPVSKPSEPR
PSPEPQISIPVKKEHIPGTLRFRLSPAARNILEKHSMDASQGTATGPRGIFTKEDALKLVQLKQTGKITESRPTPAPTAT
PTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFTEIPASNIRRVIAKRLTESKSTVPHAYATADCDLGAVLKVRQDLV
KDDIKVSVNDFIIKAAAVTLKQMPDVNVSWDGEGPKQLPFIDISVAVATDKGLLTPIIKDAAAKGIQEIADSVKALSKKA
RDGKLLPEEYQGGSFSISNLGMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAKLQQRQLITVTMSSDSRVVDD
ELATRFLKSFKANLENPIRLA*

Gene Symbol:PDHX
Accession:NM_001166158
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000200463 CLINVAR
  RCV000763736 CLINVAR
  RCV003387799 CLINVAR
dbSNP (RS) rs139052284 CLINVAR
MedGen C1855553 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PDHX CLINVAR
OMIM 245349 CLINVAR
  608769 CLINVAR