MYOC c.116A>G ;(p.K39R)

Variant ID: 1-171621636-T-C

NM_000261.1(MYOC):c.116A>G;(p.K39R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Molecular Vision
Millá, Elena E; Mañé, Begoña B; Duch, Susana S; Hernan, Imma I; Borràs, Emma E; Planas, Ester E; Dias, Miguel de Sousa Mde S; Carballo, Miguel M; Gamundi, María José MJ; ,
Publication Date: 2013

Variant appearance in text: MYOC: 116A>G; Lys39Arg
PubMed Link: 23922489
Variant Present in the following documents:
  • Main text
  • mv-v19-1707.pdf
View BVdb publication page