The
UMD-FBN1
mutations database
Mutations associated with phenotype: O-Shallow anterior chambers
Request ID: 5-36
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Arg1692_Tyr1699del
c.5074_5097del
41
1692
TGFBP#05
Small rearrangement
InF
In frame del
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
596
FRA02PAR F0001 I0001
Male
Heterozygous
FRANCE
NA
106