TYR c.1004C>T ;(p.A335V)

Variant ID: 11-88924554-C-T

NM_000372.4(TYR):c.1004C>T;(p.A335V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
Publication Date: 2021-09

Variant appearance in text: TYR: 1004C>T; Ala335Val
PubMed Link: 34313030
Variant Present in the following documents:
  • MGG3-9-e1766.pdf
View BVdb publication page



A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
Publication Date: 2021-09

Variant appearance in text: TYR: 1004C>T; Ala335Val
PubMed Link: 34313030
Variant Present in the following documents:
  • MGG3-9-e1766.pdf
View BVdb publication page



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: 1004C>T
PubMed Link: 28838317
Variant Present in the following documents:
  • 12886_2017_549_MOESM4_ESM.pdf
View BVdb publication page