PAH c.296G>T ;(p.R99M)

Variant ID: 12-103288569-C-A

NM_000277.1(PAH):c.296G>T;(p.R99M)

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:

Genetics and genomics of pulmonary arterial hypertension.

Journal Of The American College Of Cardiology
Machado, Rajiv D RD; Eickelberg, Oliver O; Elliott, C Gregory CG; Geraci, Mark W MW; Hanaoka, Masayuki M; Loyd, James E JE; Newman, John H JH; Phillips, John A JA; Soubrier, Florent F; Trembath, Richard C RC; Chung, Wendy K WK
Publication Date: 2009-06-30

Variant appearance in text: PAH: 296G>T
PubMed Link: 19555857
Variant Present in the following documents:
  • Main text
View BVdb publication page