The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Aortic valve prolapse

    Request ID: 1-4

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
	c.IVS6-1G>A (c.737-1G>A)	6-7	246	cb EGF-like #01	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 195 FRA01BOU F0120 I0158 Male Heterozygous FRANCE NA 64