ATM c.5585T>A ;(p.L1862H)

Variant ID: 11-108175490-T-A

NM_000051.3(ATM):c.5585T>A;(p.L1862H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Frontiers In Immunology
Moeini Shad, Tannaz T; Yazdani, Reza R; Amirifar, Parisa P; Delavari, Samaneh S; Heidarzadeh Arani, Marzieh M; Mahdaviani, Seyed Alireza SA; Sadeghi-Shabestari, Mahnaz M; Aghamohammadi, Asghar A; Rezaei, Nima N; Abolhassani, Hassan H
Publication Date: 2021

Variant appearance in text: ATM: 5585T>A; Leu1862His
PubMed Link: 35095854
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: ATM: 5585T>A; L1862H
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications
Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK
Publication Date: 2021-02-05

Variant appearance in text: ATM: 5585T>A; L1862H
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.

Journal Of Clinical Neurology (Seoul, Korea)
Tariq, Huma H; Imran, Rashid R; Naz, Sadaf S
Publication Date: 2018-10

Variant appearance in text: ATM: 5585T>A; Leu1862His
PubMed Link: 30198223
Variant Present in the following documents:
  • Main text
  • jcn-14-498.pdf
View BVdb publication page



New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.

Journal Of Human Genetics
Roohi, Jasmin J; Crowe, Jennifer J; Loredan, Denis D; Anyane-Yeboa, Kwame K; Mansukhani, Mahesh M MM; Omesi, Lenore L; Levine, Jennifer J; Revah Politi, Anya A; Zha, Shan S
Publication Date: 2017-04

Variant appearance in text: ATM: 5585T>A; Leu1862His
PubMed Link: 28123174
Variant Present in the following documents:
  • Main text
  • nihms840968.pdf
View BVdb publication page