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Full registry entry

Patient Id

 URHA207

Inhibitors

 ?

Mutation Type

 INSERTION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 22

Affected Codon

 2098

Affected nucleotide

 -

Mutation AA

 FRAMESHIFT

Mutation Nuc

 6349insCA

Original-final codons

 6349insCA

Affected domain

 C1

Refrence

 -

AA change

 FRAMESHIFT

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 ?

ID

 150

 

   
 

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