RGD:11590129 Rat Genome Database

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Variant: RGD:11590129 -  Homo sapiens

RGD ID: 11590129
RS ID: rs111381413
ClinVar ID: CV286410
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRPPRC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 44,114,368
GRCh38 2 43,887,229
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_008247.1:g.113777C>T
NC_000002.12:g.43887229G>A
NC_000002.11:g.44114368G>A
NM_133259.4:c.*1371C>T
More... 		01/12/2018 3 prime utr variant benign|uncertain significance 1-9 / 100 000 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRPPRC
Accession:XM_047442809
Location:3UTRS;EXON

Gene Symbol:LRPPRC
Accession:NM_133259
Location:3UTRS;EXON

Gene Symbol:LRPPRC
Accession:XM_006711915
Location:3UTRS;EXON

Gene Symbol:LRPPRC
Accession:XM_006711916
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000316121 CLINVAR
dbSNP (RS) rs111381413 CLINVAR
MedGen C1857355 CLINVAR
NCBI Gene LRPPRC CLINVAR
OMIM 220111 CLINVAR
  607544 CLINVAR