PSEN1 c.469_471delinsTGT ;(p.R157C)

Variant ID: 14-73640404-AGG-TGT

NM_000021.3(PSEN1):c.469_471delinsTGT;(p.R157C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Bmc Medical Genetics
Singh, Kanika K; Bijarnia-Mahay, Sunita S; Ramprasad, V L VL; Puri, Ratna Dua RD; Nair, Sandhya S; Sharda, Sheetal S; Saxena, Renu R; Kohli, Sudha S; Kulshreshtha, Samarth S; Ganguli, Indrani I; Gujral, Kanwal K; Verma, Ishwar C IC
Publication Date: 2020-11-02

Variant appearance in text: PS1: Arg157Cys
PubMed Link: 33138774
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_1153.pdf
View BVdb publication page