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

    Request ID: 5-23

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
	c.IVS63-2A>G (c.8052-2A>G)	63-64	2684	cb EGF-like #43		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1900 USA05HOU F0016 I01 Female Heterozygous U.S.A. NA 120