RAD50 c.1875C>T ;(p.Y625=)

Variant ID: 5-131930642-C-T

NM_005732.3(RAD50):c.1875C>T;(p.Y625=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: RAD50: 1875C>T; Tyr625=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page