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Full registry entry

Patient Id

 URHA197

Inhibitors

 FAMILIAR

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 14

Affected Codon

 1012-1013

Affected nucleotide

 -

Mutation AA

 FRAMESHIFT

Mutation Nuc

 -

Original-final codons

 3091-3094delAAGA

Affected domain

 -

Refrence

 -

AA change

 FRAMESHIFT

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 148

 

   
 

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