PSEN1 c.391C>T ;(p.H131Y)

Variant ID: 14-73640326-C-T

NM_000021.3(PSEN1):c.391C>T;(p.H131Y)

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:

A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes.

Life (Basel, Switzerland)
Gaál, Zsolt Z; Szűcs, Zsuzsanna Z; Kántor, Irén I; Luczay, Andrea A; Tóth-Heyn, Péter P; Benn, Orsolya O; Felszeghy, Enikő E; Karádi, Zsuzsanna Z; Madar, László L; Balogh, István I
Publication Date: 2021-07-27

Variant appearance in text: PS1: 391C>T
PubMed Link: 34440499
Variant Present in the following documents:
  • Main text
View BVdb publication page