ATM c.*29C>G

Variant ID: 11-108236264-C-G

NM_000051.3(ATM):c.*29C>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: rs3218711
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Exome Sequencing Analysis Identifies Rare Variants in ATM and RPL8 That Are Associated With Shorter Telomere Length.

Frontiers In Genetics
van der Spek, Ashley A; Warner, Sophie C SC; Broer, Linda L; Nelson, Christopher P CP; Vojinovic, Dina D; Ahmad, Shahzad S; Arp, Pascal P PP; Brouwer, Rutger W W RWW; Denniff, Matthew M; van den Hout, Mirjam C G N MCGN; van Rooij, Jeroen G J JGJ; Kraaij, Robert R; van IJcken, Wilfred F J WFJ; Samani, Nilesh J NJ; Ikram, M Arfan MA; Uitterlinden, André G AG; Codd, Veryan V; Amin, Najaf N; van Duijn, Cornelia M CM
Publication Date: 2020

Variant appearance in text: rs3218711
PubMed Link: 32425970
Variant Present in the following documents:
  • Main text
  • fgene-11-00337.pdf
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: rs3218711
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs3218711
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs3218711
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



TIAM1 variants improve clinical outcome in neuroblastoma.

Oncotarget
Sanmartín, Elena E; Yáñez, Yania Y; Fornés-Ferrer, Victoria V; Zugaza, José L JL; Cañete, Adela A; Castel, Victoria V; Font de Mora, Jaime J
Publication Date: 2017-07-11

Variant appearance in text: rs3218711
PubMed Link: 28423360
Variant Present in the following documents:
  • oncotarget-08-45286-s004.xlsx, sheet 1
View BVdb publication page



Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

Plos One
George Priya Doss, C C; Rajith, B B
Publication Date: 2012

Variant appearance in text: rs3218711
PubMed Link: 22529920
Variant Present in the following documents:
  • Main text
  • pone.0034573.pdf
View BVdb publication page