PSEN1 c.1167_1168insGA ;(p.S390Efs*20)

Variant ID: 14-73683871-C-CGA

NM_000021.3(PSEN1):c.1167_1168insGA;(p.S390Efs*20)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.

Frontiers In Genetics
Pace, Nikolai Paul NP; Mintoff, Dillon D; Borg, Isabella I
Publication Date: 2022

Variant appearance in text: PSEN1: 1167_1168insGA
PubMed Link: 35401657
Variant Present in the following documents:
  • Main text
  • fgene-13-861241.pdf
View BVdb publication page


γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.

Dermatology (Basel, Switzerland)
Wang, Zhongshuai Z; Yan, Yan Y; Wang, Baoxi B
Publication Date: 2021

Variant appearance in text: PSEN1: 1167_1168insGA; S390EfsX20
PubMed Link: 33333507
Variant Present in the following documents:
  • Main text
View BVdb publication page