The UMD-FBN1 mutations database
Mutations associated with phenotype: O-Corneal guttae

    Request ID: 5-10

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Ser322Cys	c.965C>G	8	322	cb EGF-like #02		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1863 USA11DUR F0001 I0001 Male Homozygous U.S.A. NA 161