ATM c.4669A>G ;(p.I1557V)

Variant ID: 11-108164097-A-G

NM_000051.3(ATM):c.4669A>G;(p.I1557V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: ATM: Ile1557Val
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 5
View BVdb publication page



Discovery of novel non-synonymous SNP variants in 988 candidate genes from 6 centenarians by target capture and next-generation sequencing.

Mechanisms Of Ageing And Development
Han, Jeehae J; Ryu, Seungjin S; Moskowitz, David M DM; Rothenberg, Devorah D; Leahy, Daniel J DJ; Atzmon, Gil G; Barzilai, Nir N; Suh, Yousin Y
Publication Date: 2013-10

Variant appearance in text: ATM: 4669A>G
PubMed Link: 23376243
Variant Present in the following documents:
  • Main text
View BVdb publication page