PCSK2 c.1784A>T ;(p.Q595L)

Variant ID: 20-17462582-A-T

NM_002594.3(PCSK2):c.1784A>T;(p.Q595L)

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:

Functional analysis of PCSK2 coding variants: A founder effect in the Old Order Amish population.

Diabetes Research And Clinical Practice
Winters, Alexandra A; Ramos-Molina, Bruno B; Jarvela, Timothy S TS; Yerges-Armstrong, Laura L; Pollin, Toni I TI; Lindberg, Iris I
Publication Date: 2017-09

Variant appearance in text: PCSK2: Q595L; rs148983041
PubMed Link: 28719828
Variant Present in the following documents:
  • Main text
View BVdb publication page