The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Pulmonary annulus dilatation

    Request ID: 1-21

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gly1013Arg	c.3037G>A	24	1013	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 426 CHI01HKO F0001 I0001 Male Heterozygous CHINA NA 94