PCSK2 c.843C>T ;(p.P281=)

Variant ID: 20-17417486-C-T

NM_002594.3(PCSK2):c.843C>T;(p.P281=)

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:

Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.

Cornea
Aldave, Anthony J AJ; Yellore, Vivek S VS; Vo, Rosalind C RC; Kamal, Khairidzan M KM; Rayner, Sylvia A SA; Plaisier, Christopher L CL; Chen, Michael C MC; Damani, Mausam R MR; Pham, Michele N MN; Gorin, Michael B MB; Sobel, Eric E; Papp, Jeanette J
Publication Date: 2009-08

Variant appearance in text: PCSK2: 843C>T
PubMed Link: 19574904
Variant Present in the following documents:
  • Main text
View BVdb publication page