The
UMD-FBN1
mutations database
Leu to Ser mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Leu838Ser
c.2513T>C
20
838
cb EGF-like #09
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
1634
FRA01BOU F0424 I0461
Male
Heterozygous
FRANCE
NA
145