PAH c.484G>C ;(p.A162P)

Variant ID: 12-103260399-C-G

NM_000277.1(PAH):c.484G>C;(p.A162P)

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 and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

Scientific Reports
Pousada, Guillermo G; Lupo, Vincenzo V; Cástro-Sánchez, Sheila S; Álvarez-Satta, María M; Sánchez-Monteagudo, Ana A; Baloira, Adolfo A; Espinós, Carmen C; Valverde, Diana D
Publication Date: 2017-05-15

Variant appearance in text: PAH: 484G>C; A162P
PubMed Link: 28507310
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_2074.pdf
View BVdb publication page