rs4252128 Rat Genome Database

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Variant: rs4252128 -  Homo sapiens

RGD ID: 15166108
RS ID: rs4252128
ClinVar ID: CV679945
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 161,152,819
GRCh38 6 160,731,787
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000301.5:c.1481C>T
NP_000292.1:p.Ala494Val
NP_000292.1:p.Ala494Val
NM_000301.3:c.1481C>T
More... 		04/01/2023 missense variant benign|uncertain significance COME/ROM; none provided; OTITIS MEDIA, CHRONIC/RECURRENT
Disease Annotations     Click to see Annotation Detail View
otitis media  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90019513 Lipoprotein (a) levels 272,573 European ancestry individuals, 5,018 African ancestry individuals, 6,453 South Asian ancestry individuals T NR 2E-28 27.69897000433602 Affymetrix [9000000] (imputed) 0.3211 lipoprotein A measurement (EFO:0006925)
 PMID:33462484

Variant Details
Variant Transcripts
Gene Symbol:PLG
Accession:NM_000301
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 494
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHKEVVLLLLLFLKSGQGEPLDDYVNTQGASLFSVTKKQLGAGSIEECAAKCEEDEEFTCRAFQYHSKEQQCVIMAENR
KSSIIIRMRDVVLFEKKVYLSECKTGNGKNYRGTMSKTKNGITCQKWSSTSPHRPRFSPATHPSEGLEENYCRNPDNDPQ
GPWCYTTDPEKRYDYCDILECEEECMHCSGENYDGKISKTMSGLECQAWDSQSPHAHGYIPSKFPNKNLKKNYCRNPDRE
LRPWCFTTDPNKRWELCDIPRCTTPPPSSGPTYQCLKGTGENYRGNVAVTVSGHTCQHWSAQTPHTHNRTPENFPCKNLD
ENYCRNPDGKRAPWCHTTNSQVRWEYCKIPSCDSSPVSTEQLAPTAPPELTPVVQDCYHGDGQSYRGTSSTTTTGKKCQS
WSSMTPHRHQKTPENYPNAGLTMNYCRNPDADKGPWCFTTDPSVRWEYCNLKKCSGTEASVVAPPPVVLLPDVETPSEED
CMFGNGKGYRGKRVTTVTGTPCQDWAAQEPHRHSIFTPETNPRAGLEKNYCRNPDGDVGGPWCYTTNPRKLYDYCDVPQC
AAPSFDCGKPQVEPKKCPGRVVGGCVAHPHSWPWQVSLRTRFGMHFCGGTLISPEWVLTAAHCLEKSPRPSSYKVILGAH
QEVNLEPHVQEIEVSRLFLEPTRKDIALLKLSSPAVITDKVIPACLPSPNYVVADRTECFITGWGETQGTFGAGLLKEAQ
LPVIENKVCNRYEFLNGRVQSTELCAGHLAGGTDSCQGDSGGPLVCFEKDKYILQGVTSWGLGCARPNKPGVYVRVSRFV
TWIEGVMRNN*

Gene Symbol:PLG
Accession:NM_001168338
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000948754 CLINVAR
  RCV000999698 CLINVAR
dbSNP (RS) rs4252128 CLINVAR
GWAS Catalog GCST90019513 GWAS Catalog
MedGen C1833692 CLINVAR
  C3661900 CLINVAR
NCBI Gene PLG CLINVAR
OMIM 166760 CLINVAR
  173350 CLINVAR