The UMD-FBN1 mutations database
Mutations associated with phenotype: O-Not examined

    Request ID: 5-30

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Ile1048Thr	c.3143T>C	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 291 NET02UTR F0001 I01 Female Heterozygous NETHERLAND NA 65
	c.IVS30-1G>T (c.3839-1G>T)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 91 USA03STA F0006 I1121 NA Heterozygous U.S.A Type IV 28