RGD:11628507 Rat Genome Database

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Variant: RGD:11628507 -  Homo sapiens

RGD ID: 11628507
RS ID: rs35726887
ClinVar ID: CV348021
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPLA3  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 44,328,917
GRCh38 22 43,933,037
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008631.1:g.14299A>C
NC_000022.11:g.43933037A>C
NC_000022.10:g.44328917A>C
NP_079501.2:p.Thr216Pro
More... 		06/14/2016 missense variant uncertain significance Fatty liver disease, nonalcoholic 1; FATTY LIVER DISEASE, SUSCEPTIBILITY TO, 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PNPLA3
Accession:NM_025225
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYDAERGWSLSFAGCGFLGFYHVGATRCLSEHAPHLLRDARMLFGASAGALHCVGVLSGIPLEQTLQVLSDLVRKARSRN
IGIFHPSFNLSKFLRQGLCKCLPANVHQLISGKIGISLTRVSDGENVLVSDFRSKDEVVDALVCSCFIPFYSGLIPPSFR
GVRYVDGGVSDNVPFIDAKTTITVSPFYGEYDICPKVKSTNFLHVDITKLSLRLCPGNLYLLSRAFVPPDLKVLGEICLR
GYLDAFRFLEEKGICNRPQPGLKSSSEGMDPEVAMPSWANMSLDSSPESAALAVRLEGDELLDHLRLSILPWDESILDTL
SPRLATALSEEMKDKGGYMSKICNLLPIRIMSYVMLPCTLPVESAIAIVQRLVTWLPDMPDDVLWLQWVTSQVFTRVLMC
LLPASRSQMPVSSQQASPCTPEQDWPCWTPCSPKGCPAETKAEATPRSILRSSLNFFLGNKVPAGAEGLSTFPSFSLEKS
L*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000303133 CLINVAR
  RCV003258780 CLINVAR
dbSNP (RS) rs35726887 CLINVAR
MedGen C0950123 CLINVAR
  C2750440 CLINVAR
NCBI Gene PNPLA3 CLINVAR
OMIM 609567 CLINVAR
  613282 CLINVAR