APP c.880C>T ;(p.Q294*)

Variant ID: 21-27372483-G-A

NM_000484.3(APP):c.880C>T;(p.Q294*)

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:

Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status.

Scientific Reports
Smieszek, S P SP; Welsh, S S; Xiao, C C; Wang, J J; Polymeropoulos, C C; Birznieks, G G; Polymeropoulos, M H MH
Publication Date: 2020-02-17

Variant appearance in text: AD1: Q294*
PubMed Link: 32066784
Variant Present in the following documents:
  • Main text
View BVdb publication page