APP c.616del ;(p.S206Rfs*20)

Variant ID: 21-27423362-GA-G

NM_000484.3(APP):c.616del;(p.S206Rfs*20)

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:

The first case of NEUROD1-MODY reported in Latin America.

Molecular Genetics & Genomic Medicine
Abreu, Gabriella de Medeiros GM; Tarantino, Roberta Magalhães RM; Cabello, Pedro Hernan PH; Zembrzuski, Verônica Marques VM; da Fonseca, Ana Carolina Proença ACP; Rodacki, Melanie M; Zajdenverg, Lenita L; Campos Junior, Mário M
Publication Date: 2019-12

Variant appearance in text: AD1: 616_616del
PubMed Link: 31578821
Variant Present in the following documents:
  • Main text
  • MGG3-7-e989.pdf
View BVdb publication page