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Full registry entry

Patient Id

 URHA110

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 11

Affected Codon

 504

Affected nucleotide

 1569

Mutation AA

 L504L

Mutation Nuc

 1569G>T

Original-final codons

 CGT>CTT

Affected domain

 A2

Refrence

 -

AA change

 Leu>Leu

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 7

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 129

 

   
 

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