RGD:15102095 Rat Genome Database

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Variant: RGD:15102095 -  Homo sapiens

RGD ID: 15102095
RS ID: rs1425174344
ClinVar ID: CV784232
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPLA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 824,125
GRCh38 11 824,125
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.1047C>T
NG_023394.1:g.10225C>T
NC_000011.10:g.824125C>T
NC_000011.9:g.824125C>T
More... 		10/12/2018 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: T to T (synonymous)
Amino Acid Position: 349
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 RCV001494004 CLINVAR
dbSNP (RS) rs1425174344 CLINVAR
MedGen C1853136 CLINVAR
NCBI Gene PNPLA2 CLINVAR
OMIM 609059 CLINVAR
  610717 CLINVAR