RYR1 c.720G>T ;(p.Q240H)

Variant ID: 19-38937200-G-T

NM_000540.2(RYR1):c.720G>T;(p.Q240H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes.

Cells
Koppolu, Agnieszka A; Maksym, Radosław B RB; Paskal, Wiktor W; Machnicki, Marcin M; Rak, Beata B; Pępek, Monika M; Garbicz, Filip F; Pełka, Kacper K; Kuśmierczyk, Zofia Z; Jacko, Joanna J; Rydzanicz, Małgorzata M; Banach-Orłowska, Magdalena M; Stokłosa, Tomasz T; Płoski, Rafał R; Malejczyk, Jacek J; Włodarski, Paweł K PK
Publication Date: 2021-03-29

Variant appearance in text: RYR1: 720G>T; Gln240His
PubMed Link: 33805315
Variant Present in the following documents:
  • Main text
  • cells-10-00749.pdf
View BVdb publication page