Variant ID: 1-55512275-G-A

NM_174936.3(PCSK9):c.479G>A;(p.R160Q)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants.

Cancers
Roze, Joline F JF; Kutzera, Joachim J; Koole, Wouter W; Ausems, Margreet G E M MGEM; Engelstad, Kristi K; Piek, Jurgen M J JMJ; de Kroon, Cor D CD; Verheijen, René H M RHM; van Haaften, Gijs G; Zweemer, Ronald P RP; Monroe, Glen R GR
Publication Date: 2021-05-18

Variant appearance in text: PCSK9: 479G>A; R160Q
PubMed Link: 34069790
Variant Present in the following documents:
  • Main text
View BVdb publication page