RGD:127281686 Rat Genome Database

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Variant: RGD:127281686 -  Homo sapiens

RGD ID: 127281686
RS ID: rs2135786822
ClinVar ID: CV1100304
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PC  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 66,616,845
GRCh38 11 66,849,374
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000920.4:c.3148-4G>C
NM_001040716.2:c.3148-4G>C
NM_022172.3:c.3148-4G>C
NG_008319.1:g.114003G>C
More... 		07/02/2020 intron variant likely benign 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:XM_047427058
Location:INTRON

Gene Symbol:PC
Accession:XM_017017871
Location:INTRON

Gene Symbol:PC
Accession:XM_017017872
Location:INTRON

Gene Symbol:PC
Accession:NM_022172
Location:INTRON

Gene Symbol:PC
Accession:XM_017017869
Location:INTRON

Gene Symbol:PC
Accession:XM_006718578
Location:INTRON

Gene Symbol:PC
Accession:XM_006718579
Location:INTRON

Gene Symbol:PC
Accession:XM_017017868
Location:INTRON

Gene Symbol:PC
Accession:NM_001040716
Location:INTRON

Gene Symbol:PC
Accession:XM_011545086
Location:INTRON

Gene Symbol:PC
Accession:NM_000920
Location:INTRON

Gene Symbol:PC
Accession:XM_017017870
Location:INTRON

Gene Symbol:PC
Accession:XM_011545087
Location:INTRON

Gene Symbol:PC
Accession:XM_005274032
Location:INTRON

Gene Symbol:PC
Accession:XM_005274031
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001447301 CLINVAR
dbSNP (RS) rs2135786822 CLINVAR
MedGen C0034341 CLINVAR
NCBI Gene PC CLINVAR
OMIM 266150 CLINVAR
  608786 CLINVAR
SNOMED CT 87694001 CLINVAR