The UMD-FBN1 mutations database
Mutations associated with phenotype: CF-Bifid/broad uvula

    Request ID: 2-1

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Tyr1101Cys	c.3302A>G	26	1101	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1274 AUS02WES F0063 I01 Male Heterozygous AUSTRALIA NA 142