The UMD-FBN1 mutations database
Mutations involving intron 23

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Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
	c.IVS23+1G>A (c.2854+1G>A)	23-24	952	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3238 AUS01VIE F0005 I0001 Female Heterozygous AUSTRIA NA 271
	c.IVS23+1G>C (c.2854+1G>C)	23-24	952	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2743 FRA01BOU F1011 I1047 Female Heterozygous FRANCE NA 207