ADAM15 c.718C>A ;(p.L240M)

Variant ID: 1-155028450-C-A

NM_207197.2(ADAM15):c.718C>A;(p.L240M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications
Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK
Publication Date: 2019-09-19

Variant appearance in text: ADAM15: L240M
PubMed Link: 31537801
Variant Present in the following documents:
  • 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: ADAM15: L240M; rs77062647
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Plos One
Chang, Han H; Jackson, Donald G DG; Kayne, Paul S PS; Ross-Macdonald, Petra B PB; Ryseck, Rolf-Peter RP; Siemers, Nathan O NO
Publication Date: 2011

Variant appearance in text: ADAM15: L240M
PubMed Link: 21701589
Variant Present in the following documents:
  • pone.0021097.s002.xls, sheet 4
View BVdb publication page