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

    Request ID: 6-9

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Tyr2670X	c.8010C>G	63	2670	cb EGF-like #43	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3349 GER07COL F0006 I0001 Female Heterozygous SAUDI ARABIA NA 281