The UMD-FBN1 mutations database
Mutations associated with phenotype: SI-Thickened skin

    Request ID: 8-13

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys1721Gly	c.5161T>G	41	1721	TGFBP#05	C in disulfide bonds 1721-1748	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3170 JAP04KOB F0001 I0001 Female Heterozygous JAPAN NA 245