PSEN1 c.895G>A ;(p.A299T)

Variant ID: 14-73673120-G-A

NM_000021.3(PSEN1):c.895G>A;(p.A299T)

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:

Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C.

Frontiers In Neurology
Duan, Xiaohui X; Ma, Yan Y; Fan, Dongsheng D; Liu, Xiaoxuan X
Publication Date: 2021

Variant appearance in text: PS1: 895G>A
PubMed Link: 33643188
Variant Present in the following documents:
  • Main text
  • fneur-12-598168.pdf
View BVdb publication page