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
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
18
FIN01HEL F0004 I01
Male
Heterozygous
FINLAND
NA
10