The
UMD-FBN1
mutations database
Mutations involving intron 4
Request ID:
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
c.IVS4-2A>G (c.443-2A>G)
4-5
148
EGF-like#03
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
814
BEL01GHE F0158 I01
NA
Heterozygous
BELGIUM
NA
122