The UMD-FBN1 mutations database
Mutations associated with phenotype: SI-Incomplete description

    Request ID: 8-3

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
	c.IVS2+1G>A (c.247+1G>A)	2-3	83	EGF-like #01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1917 UKD07WIL F0093 I0001 Male Heterozygous U.K. NA 178
p.Gln258X	c.772C>T	7	258	cb EGF-like #01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1721 UKD07WIL F0005 I0001 Male Heterozygous U.K. NA 157
p.Tyr452ThrfsX127	c.1354delT	11	452	EGF-like #04		Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1723 UKD07WIL F0007 I0001 Female Heterozygous U.K. NA 157