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
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
3357
USA22DAL F0001 I0001
Female
Heterozygous
U.S.A.
NA
283