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Full registry entry
Patient Id
UMHA0038
Inhibitors
Mutation Type
SUSTITUTION
Gen
FVIII
Mutation effect
SPLICING ERROR
Region
INTRON
Exon inton number
19
Affected Codon
-
Affected nucleotide
Mutation AA
Mutation Nuc
IVS19+9C>G
Original-final codons
TA/gtgagtagc>TA/gtgagtagg
Affected domain
Refrence
AA change
Diagnostic lab
UDTM
Coagulopathy
HA
Severity
MILD
FactorC(%)
23
FactorAg(%)
Origin
ID
217
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