RB1 c.175del ;(p.A59Hfs*6)

Variant ID: 13-48881453-TG-T

NM_000321.2(RB1):c.175del;(p.A59Hfs*6)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Plos One
Tomar, Swati S; Sethi, Raman R; Sundar, Gangadhara G; Quah, Thuan Chong TC; Quah, Boon Long BL; Lai, Poh San PS
Publication Date: 2017

Variant appearance in text: RB1: 175delG
PubMed Link: 28575107
Variant Present in the following documents:
  • Main text
  • pone.0178776.pdf
View BVdb publication page