RGD:11620041 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:11620041 -  Homo sapiens

RGD ID: 11620041
RS ID: rs111858832
ClinVar ID: CV327681
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PC  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 66,633,834
GRCh38 11 66,866,363
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_008319.1:g.97014C>G
NC_000011.10:g.66866363G>C
NC_000011.9:g.66633834G>C
NM_000920.3:c.1023-14C>G
More...
12/08/2021 intron variant conflicting interpretations of pathogenicity|uncertain significance infancy 1-9 / 1 000 000 Ataxia with lactic acidosis 2; ATAXIA WITH LACTIC ACIDOSIS II; Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency; Leigh syndrome due to pyruvate carboxylase deficiency; PC deficiency; Pyruvate Carboxylase Deficiency Disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PC
Accession:NM_000920
Location:INTRON

Gene Symbol:PC
Accession:NM_001040716
Location:INTRON

Gene Symbol:PC
Accession:NM_022172
Location:INTRON

Gene Symbol:PC
Accession:XM_005274031
Location:INTRON

Gene Symbol:PC
Accession:XM_005274032
Location:INTRON

Gene Symbol:PC
Accession:XM_006718578
Location:INTRON

Gene Symbol:PC
Accession:XM_006718579
Location:INTRON

Gene Symbol:PC
Accession:XM_011545086
Location:INTRON

Gene Symbol:PC
Accession:XM_011545087
Location:INTRON

Gene Symbol:PC
Accession:XM_017017871
Location:INTRON

Gene Symbol:PC
Accession:XM_017017869
Location:INTRON

Gene Symbol:PC
Accession:XM_017017870
Location:INTRON

Gene Symbol:PC
Accession:XM_017017868
Location:INTRON

Gene Symbol:PC
Accession:XM_017017872
Location:INTRON

Gene Symbol:PC
Accession:XM_047427058
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000332434 CLINVAR
dbSNP (RS) rs111858832 CLINVAR
MedGen C0034341 CLINVAR
NCBI Gene PC CLINVAR
OMIM 266150 CLINVAR
  608786 CLINVAR
SNOMED CT 87694001 CLINVAR