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

    Request ID: 5-25

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Arg1692_Tyr1699del
c.5074_5097del
41
1692
TGFBP#05
Small rearrangement
InF
In frame del
1