The UMD-FBN1 mutations database
Mutations associated with phenotype: S-Chondromalacia Patellae

    Request ID: 6-8

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gly2536Arg	c.7606G>A	61	2536	cb EGF-like #40	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 368 UKD05LON F0005 I24 Female Heterozygous U.K. NA 83