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Full registry entry

Patient Id

 UMHA0842

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 4

Affected Codon

 136

Affected nucleotide

 463

Mutation AA

 Y136H

Mutation Nuc

 463T>C

Original-final codons

 TAT>CAT

Affected domain

 A1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MODERATE

FactorC(%)

 4

FactorAg(%)

 -

Origin

 ?

ID

 431

 

   
 

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