RGD:127291302 Rat Genome Database

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Variant: RGD:127291302 -  Homo sapiens

RGD ID: 127291302
RS ID: rs371125971
ClinVar ID: CV1143005
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPLA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 821,848
GRCh38 11 821,848
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023394.1:g.7948C>T
NC_000011.10:g.821848C>T
NC_000011.9:g.821848C>T
NP_065109.1:p.Asp136=
More... 		09/02/2020 synonymous variant likely benign 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: D to D (synonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPREKTWNISFAGCGFLGVYYVGVASCLREHAPFLVANATHIYGASAGALTATALVTGVCLGEAGAKFIEVSKEARKRF
LGPLHPSFNLVKIIRSFLLKVLPADSHEHASGRLGISLTRVSDGENVIISHFNSKDELIQANVCSGFIPVYCGLIPPSLQ
GVRYVDGGISDNLPLYELKNTITVSPFSGESDICPQDSSTNIHELRVTNTSIQFNLRNLYRLSKALFPPEPLVLREMCKQ
GYRDGLRFLQRNGLLNRPNPLLALPPARPHGPEDKDQAVESAQAEDYSQLPGEDHILEHLPARLNEALLEACVEPTDLLT
TLSNMLPVRLATAMMVPYTLPLESALSFTIRLLEWLPDVPEDIRWMKEQTGSICQYLVMRAKRKLGRHLPSRLPEQVELR
RVQSLPSVPLSCAAYREALPGWMRNNLSLGDALAKWEECQRQLLLGLFCTNVAFPPEALRMRAPADPAPAPADPASPQHQ
LAGPAPLLSTPAPEARPVIGALGL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001496201 CLINVAR
dbSNP (RS) rs371125971 CLINVAR
MedGen C1853136 CLINVAR
NCBI Gene PNPLA2 CLINVAR
OMIM 609059 CLINVAR
  610717 CLINVAR