The UMD-FBN1 mutations database
Mutations associated with phenotype: CF-Upward slanting palpebral fissures

    Request ID: 2-17

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Thr2736AsnfsX2
c.8206dup
64
2736
FibuCTDIII-like motif
Small rearrangement
Fr.
Stop at 2737
1