HR c.1195G>A ;(p.E399K)

Variant ID: 8-21984760-C-T

NM_005144.4(HR):c.1195G>A;(p.E399K)

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:

Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.

Eye And Vision (London, England)
Liu, Xuerui X; Zheng, Tao T; Zhao, Chuchu C; Zhang, Yi Y; Liu, Hanruo H; Wang, Liyuan L; Liu, Ping P
Publication Date: 2021-06-15

Variant appearance in text: HR: 1195G>A; E399K
PubMed Link: 34130750
Variant Present in the following documents:
  • 40662_2021_Article_246.pdf
View BVdb publication page