RGD:11646420 Rat Genome Database

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Variant: RGD:11646420 -  Homo sapiens

RGD ID: 11646420
RS ID: rs144697795
ClinVar ID: CV286555
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPV17  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 27,532,433
GRCh38 2 27,309,565
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008075.1:g.17999C>T
NC_000002.12:g.27309565G>A
NC_000002.11:g.27532433G>A
NM_002437.5:c.*347C>T
More... 		06/14/2016 3 prime utr variant uncertain significance Hepatocerebral Mitochondrial DNA Depletion Syndrome; Mitochondrial DNA depletion syndrome type 6; Navajo neurohepatopathy; Navajo neuropathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MPV17
Accession:NM_002437
Location:3UTRS;EXON

Gene Symbol:MPV17
Accession:XM_005264326
Location:3UTRS;EXON

Gene Symbol:MPV17
Accession:XM_017004151
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000270503 CLINVAR
  RCV003227476 CLINVAR
dbSNP (RS) rs144697795 CLINVAR
MedGen C1850406 CLINVAR
  C4310690 CLINVAR
NCBI Gene MPV17 CLINVAR
OMIM 137960 CLINVAR
  256810 CLINVAR
  617156 CLINVAR