RB1 c.1238A>T ;(p.E413V)

Variant ID: 13-48951076-A-T

NM_000321.2(RB1):c.1238A>T;(p.E413V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies.

Journal Of Clinical Medicine
Gerrish, Amy A; Bowns, Benjamin B; Mashayamombe-Wolfgarten, Chipo C; Young, Elizabeth E; Court, Samantha S; Bott, Joshua J; McCalla, Maureen M; Ramsden, Simon S; Parks, Michael M; Goudie, David D; Carless, Sue S; Clokie, Samuel S; Cole, Trevor T; Allen, Stephanie S
Publication Date: 2020-10-30

Variant appearance in text: RB1: 1238A>T
PubMed Link: 33143217
Variant Present in the following documents:
  • jcm-09-03517.pdf
  • jcm-09-03517-s001.pdf
View BVdb publication page