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

    Request ID: 5-33

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys1242Tyr	c.3725G>A	30	1242	cb EGF-like #16	Disulfide bonds 1242-1254 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 21 FIN01HEL F0007 I01 Male Heterozygous FINLAND Type IV 10