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Full registry entry

Patient Id

 UMHA0823

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 795

Affected nucleotide

 2440

Mutation AA

 R795X

Mutation Nuc

 2440C>T

Original-final codons

 CGA>TGA

Affected domain

 B

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 ?

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 414

 

   
 

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