PSEN1 c.1130G>C ;(p.R377T)

Variant ID: 14-73683834-G-C

NM_000021.3(PSEN1):c.1130G>C;(p.R377T)

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 II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.

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: 2021-07-30

Variant appearance in text: PS1: 1130G>C
PubMed Link: 34440516
Variant Present in the following documents:
  • Main text
  • life-11-00771.pdf
View BVdb publication page