PSEN1 c.272_292del ;(p.L91_A98delinsP)

Variant ID: 14-73637689-CTCTGCATGGTGGTGGTCGTGG-C

NM_000021.3(PSEN1):c.272_292del;(p.L91_A98delinsP)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.

Kidney International Reports
Cogal, Andrea G AG; Arroyo, Jennifer J; Shah, Ronak Jagdeep RJ; Reese, Kalina J KJ; Walton, Brenna N BN; Reynolds, Laura M LM; Kennedy, Gabrielle N GN; Seide, Barbara M BM; Senum, Sarah R SR; Baum, Michelle M; Erickson, Stephen B SB; Jagadeesh, Sujatha S; Soliman, Neveen A NA; Goldfarb, David S DS; Beara-Lasic, Lada L; Edvardsson, Vidar O VO; Palsson, Runolfur R; Milliner, Dawn S DS; Sas, David J DJ; Lieske, John C JC; Harris, Peter C PC; ,
Publication Date: 2021-11

Variant appearance in text: PS1: 272_292del
PubMed Link: 34805638
Variant Present in the following documents:
  • main.pdf
View BVdb publication page