MYOC c.648G>A ;(p.K216=)

Variant ID: 1-171607819-C-T

NM_000261.1(MYOC):c.648G>A;(p.K216=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.

Scientific Reports
O'Gorman, Luke L; Cree, Angela J AJ; Ward, Daniel D; Griffiths, Helen L HL; Sood, Roshan R; Denniston, Alastair K AK; Self, Jay E JE; Ennis, Sarah S; Lotery, Andrew J AJ; Gibson, Jane J
Publication Date: 2019-02-28

Variant appearance in text: MYOC: K216K; rs141584495
PubMed Link: 30816137
Variant Present in the following documents:
  • Main text
  • 41598_2019_38760_MOESM1_ESM.pdf
  • 41598_2019_Article_38760.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: MYOC: K216K
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page