VARIANT: 5592v1
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Entry
5592v1 Variant
Name
PRKG1 mutation
Type
Loss of function
Gene
PRKG1
protein kinase cGMP-dependent 1 [KO:
K07376
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
176894
Network
nt06325
Hormone/cytokine signaling
Disease
H00801
Familial thoracic aortic aneurysm and dissection
Reference
PMID:
23910461
Authors
Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA, Kim C, Milewicz DM
Title
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Journal
Am J Hum Genet 93:398-404 (2013)
DOI:
10.1016/j.ajhg.2013.06.019
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