GC c.1274_1275delinsAT ;(p.R425H)

Variant ID: 4-72618355-TC-AT

NM_000583.3(GC):c.1274_1275delinsAT;(p.R425H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Leukemia
Lundgren, Sofie S; Keränen, Mikko A I MAI; Kankainen, Matti M; Huuhtanen, Jani J; Walldin, Gunilla G; Kerr, Cassandra M CM; Clemente, Michael M; Ebeling, Freja F; Rajala, Hanna H; Brück, Oscar O; Lähdesmäki, Harri H; Hannula, Sari S; Hannunen, Tiina T; Ellonen, Pekka P; Young, Neal S NS; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP; Hellström-Lindberg, Eva E; Mustjoki, Satu S
Publication Date: 2021-05

Variant appearance in text: GC: R425H
PubMed Link: 33785863
Variant Present in the following documents:
  • 41375_2021_1231_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Frontiers In Neurology
Chakravorty, Samya S; Nallamilli, Babi Ramesh Reddy BRR; Khadilkar, Satish Vasant SV; Singla, Madhu Bala MB; Bhutada, Ashish A; Dastur, Rashna R; Gaitonde, Pradnya Satish PS; Rufibach, Laura E LE; Gloster, Logan L; Hegde, Madhuri M
Publication Date: 2020

Variant appearance in text: GC: R425H
PubMed Link: 33250842
Variant Present in the following documents:
  • fneur-11-559327.pdf
View BVdb publication page



Establishment and characterisation of testicular cancer patient-derived xenograft models for preclinical evaluation of novel therapeutic strategies.

Scientific Reports
de Vries, Gerda G; Rosas-Plaza, Ximena X; Meersma, Gert Jan GJ; Leeuwenburgh, Vincent C VC; Kok, Klaas K; Suurmeijer, Albert J H AJH; van Vugt, Marcel A T M MATM; Gietema, Jourik A JA; de Jong, Steven S
Publication Date: 2020-11-03

Variant appearance in text: GC: Arg425His
PubMed Link: 33144587
Variant Present in the following documents:
  • 41598_2020_75518_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: GC: R425H
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page