The UMD-FBN1 mutations database
Mutations associated with phenotype: SI-Easy bruising

    Request ID: 8-2

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Thr354Ser	c.1061C>G	9	354	TGFBP#01	conserved AA in TGFBP	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3361 USA22DAL F0003 I0001 Female Heterozygous U.S.A. NA 285
p.Lys2719ThrfsX12	c.8155_8174del	64	2719	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2730	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2859 AUS02WES F0065 I0001 Male Heterozygous IRELAND NA 221