PAH c.677A>T ;(p.Q226L)

Variant ID: 12-103248943-T-A

NM_000277.1(PAH):c.677A>T;(p.Q226L)

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:

MURC deficiency in smooth muscle attenuates pulmonary hypertension.

Nature Communications
Nakanishi, Naohiko N; Ogata, Takehiro T; Naito, Daisuke D; Miyagawa, Kotaro K; Taniguchi, Takuya T; Hamaoka, Tetsuro T; Maruyama, Naoki N; Kasahara, Takeru T; Nishi, Masahiro M; Matoba, Satoaki S; Ueyama, Tomomi T
Publication Date: 2016-08-22

Variant appearance in text: PAH: Q226L
PubMed Link: 27546070
Variant Present in the following documents:
  • Main text
  • ncomms12417.pdf
View BVdb publication page