The UMD-FBN1 mutations database
Mutations involving intron 17

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Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
	c.IVS17+2T>C (c.2167+2T>C)	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3347 GER07COL F0004 I0001 Male Heterozygous SAUDI ARABIA NA 281
	c.IVS17-1G>A (c.2168-1G>A)	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 571 UKD04OXF F0016 I36 NA Heterozygous U.K. NA 88
	c.IVS17-1G>T (c.2168-1G>T)	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1911 CHI09GUA F0001 I0001 Male Heterozygous CHINA NA 179
	c.IVS17-2A>G (c.2168-2A>G)	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Ts	A->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 475 GER01BER F0035 I02 Female Heterozygous GERMANY NA 95 2454 FRA01BOU F0710 I0747 Male Heterozygous FRANCE NA 207 2472 FRA01BOU F0729 I0766 Male Heterozygous FRANCE NA 207