APP c.1124T>C ;(p.V375A)

Variant ID: 21-27354757-A-G

NM_000484.3(APP):c.1124T>C;(p.V375A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.

Cold Spring Harbor Molecular Case Studies
Cochran, J Nicholas JN; McKinley, Emily C EC; Cochran, Meagan M; Amaral, Michelle D MD; Moyers, Bryan A BA; Lasseigne, Brittany N BN; Gray, David E DE; Lawlor, James M J JMJ; Prokop, Jeremy W JW; Geier, Ethan G EG; Holt, James M JM; Thompson, Michelle L ML; Newberry, J Scott JS; Yokoyama, Jennifer S JS; Worthey, Elizabeth A EA; Geldmacher, David S DS; Love, Marissa Natelson MN; Cooper, Gregory M GM; Myers, Richard M RM; Roberson, Erik D ED
Publication Date: 2019-12

Variant appearance in text: APP: 1124T>C
PubMed Link: 31836585
Variant Present in the following documents:
  • Main text
  • MCS003491Coc.pdf
View BVdb publication page