PSEN1 c.1222_1224del ;(p.I408del)

Variant ID: 14-73683926-CATA-C

NM_000021.3(PSEN1):c.1222_1224del;(p.I408del)

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:

Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.

Molecular Genetics & Genomic Medicine
Higuchi, Yousuke Y; Hasegawa, Kosei K; Futagawa, Natsuko N; Yamashita, Miho M; Tanaka, Hiroyuki H; Tsukahara, Hirokazu H
Publication Date: 2021-06

Variant appearance in text: PS1: 1222_1224del
PubMed Link: 33939306
Variant Present in the following documents:
  • Main text
View BVdb publication page