TYR c.838G>T ;(p.E280*)

Variant ID: 11-88924388-G-T

NM_000372.4(TYR):c.838G>T;(p.E280*)

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, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Journal Of Current Glaucoma Practice
Faiq, Muneeb M; Sharma, Reetika R; Dada, Rima R; Mohanty, Kuldeep K; Saluja, Daman D; Dada, Tanuj T
Publication Date: 2013

Variant appearance in text: TYR: E280X
PubMed Link: 26997785
Variant Present in the following documents:
  • Main text
  • jocgp-07-066.pdf
View BVdb publication page