BMPR1B c.1176C>A ;(p.F392L)

Variant ID: 4-96069998-C-A

NM_001203.2(BMPR1B):c.1176C>A;(p.F392L)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

A systematic review of genetic mutations in pulmonary arterial hypertension.

Bmc Medical Genetics
Garcia-Rivas, Gerardo G; Jerjes-Sánchez, Carlos C; Rodriguez, David D; Garcia-Pelaez, José J; Trevino, Victor V
Publication Date: 2017-08-02

Variant appearance in text: BMPR1B: 1176C>A; F392L
PubMed Link: 28768485
Variant Present in the following documents:
  • 12881_2017_440_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page


Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation
Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E
Publication Date: 2015-12

Variant appearance in text: BMPR1B: F392L
PubMed Link: 26387786
Variant Present in the following documents:
  • Main text
View BVdb publication page


Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

European Journal Of Human Genetics : Ejhg
Racacho, Lemuel L; Byrnes, Ashley M AM; MacDonald, Heather H; Dranse, Helen J HJ; Nikkel, Sarah M SM; Allanson, Judith J; Rosser, Elisabeth E; Underhill, T Michael TM; Bulman, Dennis E DE
Publication Date: 2015-12

Variant appearance in text: BMPR1B: F392L
PubMed Link: 25758993
Variant Present in the following documents:
  • Main text
  • ejhg201538a.pdf
View BVdb publication page


The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension.

Scientifica
Machado, Rajiv D RD
Publication Date: 2012

Variant appearance in text: BMPR1B: F392L
PubMed Link: 24278664
Variant Present in the following documents:
  • Main text
  • SCIENTIFICA2012-106576.pdf
View BVdb publication page