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Full registry entry

Patient Id

 URHA232

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 25

Affected Codon

 2231

Affected nucleotide

 6750

Mutation AA

 Q2231H

Mutation Nuc

 6750A>C

Original-final codons

 CAA>CAC

Affected domain

 C2

Refrence

 -

AA change

 Gln>His

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 8

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 154

 

   
 

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