PDE11A c.2411G>T ;(p.R804L)

Variant ID: 2-178545566-C-A

NM_016953.3(PDE11A):c.2411G>T;(p.R804L)

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:

Rare inactivating PDE11A variants associated with testicular germ cell tumors.

Endocrine-Related Cancer
Pathak, Anand A; Stewart, Douglas R DR; Faucz, Fabio R FR; Xekouki, Paraskevi P; Bass, Sara S; Vogt, Aurelie A; Zhang, Xijun X; Boland, Joseph J; Yeager, Meredith M; Loud, Jennifer T JT; Nathanson, Katherine L KL; McGlynn, Katherine A KA; Stratakis, Constantine A CA; Greene, Mark H MH; Mirabello, Lisa L
Publication Date: 2015-12

Variant appearance in text: PDE11A: 2411G>T
PubMed Link: 26459559
Variant Present in the following documents:
  • Main text
View BVdb publication page