EPHA2 c.1790C>T ;(p.P597L)

Variant ID: 1-16460050-G-A

NM_004431.3(EPHA2):c.1790C>T;(p.P597L)

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:

Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One
Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A
Publication Date: 2017

Variant appearance in text: EPHA2: P597L
PubMed Link: 29267365
Variant Present in the following documents:
  • Main text
  • pone.0189881.s004.xlsx, sheet 3
  • pone.0189881.s004.xlsx, sheet 1
  • pone.0189881.pdf
  • pone.0189881.s004.xlsx, sheet 2
View BVdb publication page