The UMD-FBN1 mutations database
Mutations associated with phenotype: S-Infantile hypotonia

    Request ID: 6-18

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys1223Tyr	c.3668G>A	29	1223	cb EGF-like #15	Disulfide bonds 1223-1236 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 73 USA01BAL F0029 I01 Female Heterozygous U.S.A NA 29