APP c.2258del ;(p.Q753Rfs*43)

Variant ID: 21-27254036-CT-C

NM_000484.3(APP):c.2258del;(p.Q753Rfs*43)

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:

Emerging role of NIK/IKK2-binding protein (NIBP)/trafficking protein particle complex 9 (TRAPPC9) in nervous system diseases.

Translational Research : The Journal Of Laboratory And Clinical Medicine
Bodnar, Brittany B; DeGruttola, Arianna A; Zhu, Yuanjun Y; Lin, Yuan Y; Zhang, Yonggang Y; Mo, Xianming X; Hu, Wenhui W
Publication Date: 2020-10

Variant appearance in text: APP: 2258del
PubMed Link: 32434006
Variant Present in the following documents:
  • Main text
View BVdb publication page