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Full registry entry

Patient Id

 UMHA0519

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 4

Affected Codon

 156

Affected nucleotide

 523

Mutation AA

 Y156H

Mutation Nuc

 523T>C

Original-final codons

 TAC>CAC

Affected domain

 A1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 16

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 350

 

   
 

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