The UMD-FBN1 mutations database
Mutations associated with phenotype: O-Retinal ablation

    Request ID: 5-32

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Trp2756X	c.8268G>A	65	2756	FibuCTDIII-like motif		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16 FIN01HEL F0002 I01 Male Heterozygous FINLAND NA 9