RB1 c.147del ;(p.F49Lfs*16)

Variant ID: 13-48881422-GT-G

NM_000321.2(RB1):c.147del;(p.F49Lfs*16)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Correction: Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour.

The British Journal Of Ophthalmology
Publication Date: 2020-03

Variant appearance in text: RB1: 147delT
PubMed Link: 31676598
Variant Present in the following documents:
  • bjophthalmol-2018-313005corr1.pdf
View BVdb publication page



Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour.

The British Journal Of Ophthalmology
Gerrish, Amy A; Stone, Edward E; Clokie, Samuel S; Ainsworth, John R JR; Jenkinson, Helen H; McCalla, Maureen M; Hitchcott, Carol C; Colmenero, Isabel I; Allen, Stephanie S; Parulekar, Manoj M; Cole, Trevor T
Publication Date: 2019-02-11

Variant appearance in text: RB1: 147delT
PubMed Link: 30745306
Variant Present in the following documents:
  • Main text
  • bjophthalmol-2018-313005.pdf
View BVdb publication page