PSEN1 c.598C>T ;(p.L200F)

Variant ID: 14-73659401-C-T

NM_000021.3(PSEN1):c.598C>T;(p.L200F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Bmc Genomics
Chen, Sixian S; Fu, Aizhen A; Lu, Yuan Y; Lu, Wei W; Chen, Yongfeng Y; Hong, Shuiqiang S; Zhou, Suli S; Xiang, Tianmin T; Zhang, Zhenzhen Z; Cai, Yongguang Y
Publication Date: 2022-01-15

Variant appearance in text: S182: 598C>T
PubMed Link: 35031014
Variant Present in the following documents:
  • 12864_2021_8289_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Bmc Genomics
Chen, Sixian S; Fu, Aizhen A; Lu, Yuan Y; Lu, Wei W; Chen, Yongfeng Y; Hong, Shuiqiang S; Zhou, Suli S; Xiang, Tianmin T; Zhang, Zhenzhen Z; Cai, Yongguang Y
Publication Date: 2022-01-15

Variant appearance in text: S182: 598C>T
PubMed Link: 35031014
Variant Present in the following documents:
  • 12864_2021_8289_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes.

Life (Basel, Switzerland)
Gaál, Zsolt Z; Szűcs, Zsuzsanna Z; Kántor, Irén I; Luczay, Andrea A; Tóth-Heyn, Péter P; Benn, Orsolya O; Felszeghy, Enikő E; Karádi, Zsuzsanna Z; Madar, László L; Balogh, István I
Publication Date: 2021-07-27

Variant appearance in text: PS1: 598C>T
PubMed Link: 34440499
Variant Present in the following documents:
  • Main text
  • life-11-00755.pdf
View BVdb publication page