The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Mitral valve surgery

    Request ID: 1-18

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys811X	c.2433C>A	20	811	cb EGF-like #09	Disulfide bonds 811-821 (C1)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3323 BEL01GHE F0258 I0001 Female Heterozygous POLAND NA 273