RGD:28872274 Rat Genome Database

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Variant: RGD:28872274 -  Homo sapiens

RGD ID: 28872274
RS ID: rs1845836341
ClinVar ID: CV868879
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPLA2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 824,879
GRCh38 11 824,879
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020376.4:c.*17A>G
NG_023394.1:g.10979A>G
NC_000011.10:g.824879A>G
NC_000011.9:g.824879A>G
More... 		01/15/2018 3 prime utr variant uncertain significance 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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001114466 CLINVAR
dbSNP (RS) rs1845836341 CLINVAR
MedGen C1853136 CLINVAR
NCBI Gene PNPLA2 CLINVAR
OMIM 609059 CLINVAR
  610717 CLINVAR