PAH c.544G>C ;(p.E182Q)

Variant ID: 12-103249076-C-G

NM_000277.1(PAH):c.544G>C;(p.E182Q)

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:

Channelopathy Genes in Pulmonary Arterial Hypertension.

Biomolecules
Welch, Carrie L CL; Chung, Wendy K WK
Publication Date: 2022-02-07

Variant appearance in text: PAH: Glu182Gln
PubMed Link: 35204766
Variant Present in the following documents:
  • Main text
  • biomolecules-12-00265.pdf
View BVdb publication page