Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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