APP c.139G>C ;(p.V47L)

Variant ID: 21-27484382-C-G

NM_000484.3(APP):c.139G>C;(p.V47L)

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:

Transmembrane emp24 domain proteins in development and disease.

Genetics Research
Aber, Rachel R; Chan, Wesley W; Mugisha, Sevane S; Jerome-Majewska, Loydie A LA
Publication Date: 2019-12-27

Variant appearance in text: APP: V47L
PubMed Link: 31878985
Variant Present in the following documents:
  • Main text
  • S0016672319000090a.pdf
View BVdb publication page