RGD:126736298 Rat Genome Database

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Variant: RGD:126736298 -  Homo sapiens

RGD ID: 126736298
RS ID: rs1845609685
ClinVar ID: CV1020954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130005097  PNPLA2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 819,879
GRCh38 11 819,879
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.161C>G
NG_023394.1:g.5979C>G
NC_000011.10:g.819879C>G
NC_000011.9:g.819879C>G
More... 		03/21/2018 missense 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:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPREKTWNISFAGCGFLGVYYVGVASCLREHAPFLVANATHIYGASAGALTARALVTGVCLGEAGAKFIEVSKEARKRF
LGPLHPSFNLVKIIRSFLLKVLPADSHEHASGRLGISLTRVSDGENVIISHFNSKDELIQANVCSGFIPVYCGLIPPSLQ
GVRYVDGGISDNLPLYELKNTITVSPFSGESDICPQDSSTNIHELRVTNTSIQFNLRNLYRLSKALFPPEPLVLREMCKQ
GYRDGLRFLQRNGLLNRPNPLLALPPARPHGPEDKDQAVESAQAEDYSQLPGEDHILEHLPARLNEALLEACVEPTDLLT
TLSNMLPVRLATAMMVPYTLPLESALSFTIRLLEWLPDVPEDIRWMKEQTGSICQYLVMRAKRKLGRHLPSRLPEQVELR
RVQSLPSVPLSCAAYREALPGWMRNNLSLGDALAKWEECQRQLLLGLFCTNVAFPPEALRMRAPADPAPAPADPASPQHQ
LAGPAPLLSTPAPEARPVIGALGL*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001335050 CLINVAR
dbSNP (RS) rs1845609685 CLINVAR
MedGen C1853136 CLINVAR
NCBI Gene LOC130005097 CLINVAR
  PNPLA2 CLINVAR
OMIM 609059 CLINVAR
  610717 CLINVAR