CLPTM1L c.977-342A>G

Variant ID: 5-1330840-T-C

NM_030782.3(CLPTM1L):c.977-342A>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor.

American Journal Of Human Genetics
Derrien, Anne-Céline AC; Houy, Alexandre A; Ganier, Olivier O; Dingli, Florent F; Ningarhari, Massih M; Mobuchon, Lenha L; Espejo Díaz, María Isabel MI; Loew, Damarys D; Cassoux, Nathalie N; Cussenot, Olivier O; Cancel-Tassin, Géraldine G; Margueron, Raphael R; Noirel, Josselin J; Zucman-Rossi, Jessica J; Rodrigues, Manuel M; Stern, Marc-Henri MH
Publication Date: 2022-12-01

Variant appearance in text: rs452384
PubMed Link: 36459980
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
  • mmc3.pdf
View BVdb publication page



Characterization of population-based variation and putative functional elements for the multiple-cancer susceptibility loci at 5p15.33.

F1000Research
Mirabello, Lisa L; Chung, Charles C CC; Yeager, Meredith M; Savage, Sharon A SA
Publication Date: 2014

Variant appearance in text: rs452384
PubMed Link: 26664699
Variant Present in the following documents:
  • Main text
  • f1000research-3-5532.pdf
View BVdb publication page



Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis.

Journal Of The National Cancer Institute
Mocellin, Simone S; Verdi, Daunia D; Pooley, Karen A KA; Landi, Maria T MT; Egan, Kathleen M KM; Baird, Duncan M DM; Prescott, Jennifer J; De Vivo, Immaculata I; Nitti, Donato D
Publication Date: 2012-06-06

Variant appearance in text: rs452384
PubMed Link: 22523397
Variant Present in the following documents:
  • Main text
View BVdb publication page