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Full registry entry

Patient Id

 URHA267

Inhibitors

 FAMILIAR

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 14

Affected Codon

 999

Affected nucleotide

 3053

Mutation AA

 FRAMESHIFT

Mutation Nuc

 3053delA

Original-final codons

 3053delA

Affected domain

 B

Refrence

 -

AA change

 CANVI DE MARC DE LECTURA

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 167

 

   
 

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