TYR c.796G>C ;(p.A266P)

Variant ID: 11-88911917-G-C

NM_000372.4(TYR):c.796G>C;(p.A266P)

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:

Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.

European Journal Of Human Genetics : Ejhg
Thomas, Mervyn G MG; Maconachie, Gail DE G; Sheth, Viral V; McLean, Rebecca J RJ; Gottlob, Irene I
Publication Date: 2017-06

Variant appearance in text: TYR: Ala266Pro
PubMed Link: 28378818
Variant Present in the following documents:
  • ejhg201744a.pdf
View BVdb publication page