RGD:11617633 Rat Genome Database

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Variant: RGD:11617633 -  Homo sapiens

RGD ID: 11617633
RS ID: rs372342635
ClinVar ID: CV328270
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPLA2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 822,390
GRCh38 11 822,390
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_023394.1:g.8490G>C
NC_000011.10:g.822390G>C
NC_000011.9:g.822390G>C
NM_020376.4:c.487-7G>C
More... 		10/29/2020 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance adult <1 / 1 000 000 Neutral lipid storage disease with myopathy; Neutral lipid storage disease without ichthyosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PNPLA2
Accession:NM_020376
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000306235 CLINVAR
  RCV003920265 CLINVAR
dbSNP (RS) rs372342635 CLINVAR
MedGen C1853136 CLINVAR
NCBI Gene PNPLA2 CLINVAR
OMIM 609059 CLINVAR
  610717 CLINVAR