MYOC c.612G>A ;(p.T204=)

Variant ID: 1-171607855-C-T

NM_000261.1(MYOC):c.612G>A;(p.T204=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing.

Genome Medicine
Boichard, Amélie A; Wagner, Michael J MJ; Kurzrock, Razelle R
Publication Date: 2020-07-09

Variant appearance in text: MYOC: 612G>A; Thr204=
PubMed Link: 32646514
Variant Present in the following documents:
  • 13073_2020_753_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Myocilin mutations in black South Africans with POAG.

Molecular Vision
Whigham, Benjamin T BT; Williams, Susan E I SE; Liu, Yutao Y; Rautenbach, Robyn M RM; Carmichael, Trevor R TR; Wheeler, Joshua J; Ziskind, Ari A; Qin, Xuejun X; Schmidt, Silke S; Ramsay, Michele M; Hauser, Michael A MA; Allingham, R Rand RR
Publication Date: 2011-04-27

Variant appearance in text: MYOC: Thr204Thr; rs57824969
PubMed Link: 21552496
Variant Present in the following documents:
  • Main text
  • mv-v17-1064.pdf
View BVdb publication page