APP c.89C>A ;(p.A30D)

Variant ID: 21-27484432-G-T

NM_000484.3(APP):c.89C>A;(p.A30D)

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:

Cerebellar Calcium-Binding Protein and Neurotrophin Receptor Defects in Down Syndrome and Alzheimer's Disease.

Frontiers In Aging Neuroscience
Miguel, Jennifer C JC; Perez, Sylvia E SE; Malek-Ahmadi, Michael M; Mufson, Elliott J EJ
Publication Date: 2021

Variant appearance in text: APP: A30D
PubMed Link: 33776745
Variant Present in the following documents:
  • Main text
View BVdb publication page