MYOC c.1153G>A ;(p.E385K)

Variant ID: 1-171605427-C-T

NM_000261.1(MYOC):c.1153G>A;(p.E385K)

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:

Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure.

Cold Spring Harbor Molecular Case Studies
Criscione, June J; Ji, Weizhen W; Jeffries, Lauren L; McGrath, James M JM; Soloway, Scott S; Pusztai, Lajos L; Lakhani, Saquib S
Publication Date: 2019-12

Variant appearance in text: MYOC: 1153G>A; Glu385Lys; rs1033533679
PubMed Link: 31653660
Variant Present in the following documents:
  • Main text
  • MCS004374Cri.pdf
View BVdb publication page