PORCN c.430G>A ;(p.G144S)

Variant ID: X-48370770-G-A

NM_203475.1(PORCN):c.430G>A;(p.G144S)

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:

Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil Syndrome.

Cardiovascular Research
Manuel, Ana Isabel Moreno AIM; Gutiérrez, Lilian K LK; Pedrosa, María Linarejos Vera MLV; Uréndez, Francisco Miguel Cruz FMC; Jiménez, Francisco José Bermúdez FJB; Carrascoso, Isabel Martínez IM; Pérez, Patricia Sánchez PS; Macías, Álvaro Á; Jalife, José J
Publication Date: 2022-07-27

Variant appearance in text: por: G144S
PubMed Link: 35892314
Variant Present in the following documents:
  • Main text
View BVdb publication page