MLH1 c.1039-8T>A

Variant ID: 3-37067120-T-A

NM_000249.3(MLH1):c.1039-8T>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: rs193922367
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp003.xlsx, sheet 1
View BVdb publication page



Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.

Ophthalmology
Abdel-Rahman, Mohamed H MH; Sample, Klarke M KM; Pilarski, Robert R; Walsh, Tomas T; Grosel, Timothy T; Kinnamon, Daniel D; Boru, Getachew G; Massengill, James B JB; Schoenfield, Lynn L; Kelly, Ben B; Gordon, David D; Johansson, Peter P; DeBenedictis, Meghan J MJ; Singh, Arun A; Casadei, Silvia S; Davidorf, Frederick H FH; White, Peter P; Stacey, Andrew W AW; Scarth, James J; Fewings, Ellie E; Tischkowitz, Marc M; King, Mary-Claire MC; Hayward, Nicholas K NK; Cebulla, Colleen M CM
Publication Date: 2020-05

Variant appearance in text: rs193922367
PubMed Link: 32081490
Variant Present in the following documents:
  • Main text
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: rs193922367
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page