Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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