TYR c.1513A>C ;(p.K505Q)

Variant ID: 11-89028457-A-C

NM_000372.4(TYR):c.1513A>C;(p.K505Q)

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:

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

Bmc Ophthalmology
Wang, Xinjing X; Zein, Wadih M WM; D'Souza, Leera L; Roberson, Chimere C; Wetherby, Keith K; He, Hong H; Villarta, Angela A; Turriff, Amy A; Johnson, Kory R KR; Fann, Yang C YC
Publication Date: 2017-08-24

Variant appearance in text: TYR: 1513A>C
PubMed Link: 28838317
Variant Present in the following documents:
  • 12886_2017_549_MOESM3_ESM.pdf
  • 12886_2017_549_MOESM4_ESM.pdf
View BVdb publication page