PCSK9 c.379_380delinsTT ;(p.S127F)

Variant ID: 1-55509687-AG-TT

NM_174936.3(PCSK9):c.379_380delinsTT;(p.S127F)

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:

Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Anatolian Journal Of Cardiology
Eroğlu, Zuhal Z; Tetik Vardarlı, Aslı A; Düzgün, Zekeriya Z; Gündüz, Cumhur C; Bozok Çetintaş, Vildan V; Kayıkçıoğlu, Meral M
Publication Date: 2018-05

Variant appearance in text: PCSK9: S127F
PubMed Link: 29724976
Variant Present in the following documents:
  • Main text
  • AJC-19-334.pdf
View BVdb publication page