The UMD-FBN1 mutations database
Mutations associated with phenotype: L-Pneumectomy

    Request ID: 4-3

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg545Cys	c.1633C>T	13	545	cb EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 135 BEL01GHE F0005 I01 Male Heterozygous BELGIUM NA 89