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Full registry entry

Patient Id

 URHA399

Inhibitors

 ?

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 8

Affected Codon

 388

Affected nucleotide

 1220

Mutation AA

 FRAMESHIFT

Mutation Nuc

 1220delC

Original-final codons

 1(C)

Affected domain

 A2

Refrence

 -

AA change

 CANVI DE MARC DE LECTURA

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 ?

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 202

 

   
 

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