PAH c.1176T>G ;(p.F392L)

Variant ID: 12-103237447-A-C

NM_000277.1(PAH):c.1176T>G;(p.F392L)

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:

Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Molecular Genetics & Genomic Medicine
Abbasi, Yeganeh Y; Jabbari, Javad J; Jabbari, Reza R; Glinge, Charlotte C; Izadyar, Seyed Bahador SB; Spiekerkoetter, Edda E; Zamanian, Roham T RT; Carlsen, Jørn J; Tfelt-Hansen, Jacob J
Publication Date: 2018-09

Variant appearance in text: PAH: Phe392Leu
PubMed Link: 30084161
Variant Present in the following documents:
  • Main text
  • MGG3-6-835.pdf
View BVdb publication page