RGD:14719714 Rat Genome Database

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Variant: RGD:14719714 -  Homo sapiens

RGD ID: 14719714
RS ID: rs35768060
ClinVar ID: CV659230
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRPPRC  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 44,174,968
GRCh38 2 43,947,829
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.43947829T>A
NC_000002.11:g.44174968T>A
NM_133259.4:c.1921-54A>T
NG_008247.1:g.53177A>T
More... 		06/16/2018 intron variant benign Cox deficiency, French Canadian type; Cox deficiency, Saguenay Lac saint Jean type; Cytochrome c oxidase deficiency, French Canadian type; Leigh syndrome, French Canadian type; Leigh syndrome, Saguenay Lac saint Jean type; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRPPRC
Accession:XM_006711915
Location:INTRON

Gene Symbol:LRPPRC
Accession:NM_133259
Location:INTRON

Gene Symbol:LRPPRC
Accession:XM_047442809
Location:INTRON

Gene Symbol:LRPPRC
Accession:XM_006711916
Location:INTRON

Gene Symbol:LRPPRC
Accession:XR_007068563
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000830905 CLINVAR
  RCV001543274 CLINVAR
dbSNP (RS) rs35768060 CLINVAR
MedGen C1857355 CLINVAR
  C3661900 CLINVAR
NCBI Gene LRPPRC CLINVAR
OMIM 220111 CLINVAR
  607544 CLINVAR