PSEN1 c.473G>A ;(p.C158Y)

Variant ID: 14-73640408-G-A

NM_000021.3(PSEN1):c.473G>A;(p.C158Y)

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:

Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.

Genes
Tresbach, Rafael Hencke RH; Sperb-Ludwig, Fernanda F; Ligabue-Braun, Rodrigo R; Tonon, Tássia T; de Oliveira Cardoso, Maria Teresinha MT; Heredia, Romina Soledad RS; da Silva Rosa, Maria Teresa Alves MTA; Martins, Bárbara Cátia BC; Poubel, Monique Oliveira MO; da Silva, Luiz Carlos Santana LCS; Maillot, François F; Schwartz, Ida Vanessa Doederlein IVD
Publication Date: 2020-12-25

Variant appearance in text: PS1: 473G>A
PubMed Link: 33375644
Variant Present in the following documents:
  • genes-12-00020.pdf
View BVdb publication page