MYOC c.1446G>C ;(p.L482=)

Variant ID: 1-171605134-C-G

NM_000261.1(MYOC):c.1446G>C;(p.L482=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: MYOC: L482L
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Molecular Vision
Kumar, Arun A; Basavaraj, Manjunath G MG; Gupta, Santosh K SK; Qamar, Imteyaz I; Ali, Abdullah Mahmood AM; Bajaj, Vineeta V; Ramesh, T K TK; Prakash, D Ravi DR; Shetty, Jyoti S JS; Dorairaj, Syril K SK
Publication Date: 2007-04-30

Variant appearance in text: MYOC: Leu482Leu
PubMed Link: 17563717
Variant Present in the following documents:
  • Main text
View BVdb publication page