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Full registry entry

Patient Id

 UMHA0002

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 16

Affected Codon

 1824

Affected nucleotide

 5527

Mutation AA

 A1824T

Mutation Nuc

 5527G>A

Original-final codons

 GCA>ACA

Affected domain

 A3

Refrence

 -

AA change

 Ala>Thr

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 30

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 223

 

   
 

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