FRY c.7018A>C ;(p.I2340L)

Variant ID: 13-32823672-A-C

NM_023037.2(FRY):c.7018A>C;(p.I2340L)

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:

A novel mutation in PCK2 gene causes primary angle-closure glaucoma.

Aging
Xu, Menghan M; Yang, Jin J; Sun, Jiayue J; Xing, Xuemei X; Liu, Zheng Z; Liu, Tao T
Publication Date: 2021-10-14

Variant appearance in text: FRY: I2340L
PubMed Link: 34650006
Variant Present in the following documents:
  • Main text
  • aging-13-203627.pdf
View BVdb publication page