The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Coronary arteries dilatation/dissection

    Request ID: 1-10

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Lys1023Asn
c.3069G>C
24
1023
Small rearrangement
Tv
G->C
1