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Full registry entry

Patient Id

 UMHA0047

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 23

Affected Codon

 2163

Affected nucleotide

 6545

Mutation AA

 R2163H

Mutation Nuc

 6545G>A

Original-final codons

 CGC>CAC

Affected domain

 C1

Refrence

 -

AA change

 Arg>His

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 219

 

   
 

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