RGD:11601760 Rat Genome Database

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Variant: RGD:11601760 -  Homo sapiens

RGD ID: 11601760
RS ID: rs192495346
ClinVar ID: CV314837
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130006147  PC  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 66,725,839
GRCh38 11 66,958,368
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.5009A>C
NC_000011.10:g.66958368T>G
NC_000011.9:g.66725839T>G
NM_001040716.2:c.-274A>C
More... 		01/13/2018 5 prime utr variant benign|likely benign 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_001040716
Location:5UTRS;EXON

Gene Symbol:PC
Accession:XM_017017869
Location:5UTRS;EXON

Gene Symbol:PC
Accession:XM_017017870
Location:5UTRS;EXON

Gene Symbol:PC
Accession:XM_017017868
Location:5UTRS;EXON

Gene Symbol:PC
Accession:XM_017017871
Location:5UTRS;EXON

Gene Symbol:PC
Accession:NM_000920
Location:5UTRS;EXON

Gene Symbol:PC
Accession:XM_006718578
Location:5UTRS;EXON

Gene Symbol:PC
Accession:NM_022172
Location:INTRON

Gene Symbol:PC
Accession:XM_005274032
Location:INTRON

Gene Symbol:PC
Accession:XM_011545086
Location:INTRON

Gene Symbol:PC
Accession:XM_011545087
Location:INTRON

Gene Symbol:PC
Accession:XM_006718579
Location:INTRON

Gene Symbol:PC
Accession:XM_047427058
Location:INTRON

Gene Symbol:PC
Accession:XM_017017872
Location:INTRON

Gene Symbol:PC
Accession:XM_005274031
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000285200 CLINVAR
dbSNP (RS) rs192495346 CLINVAR
MedGen C0034341 CLINVAR
NCBI Gene LOC130006147 CLINVAR
  PC CLINVAR
OMIM 266150 CLINVAR
  608786 CLINVAR
SNOMED CT 87694001 CLINVAR