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Full registry entry

Patient Id

 URHA419

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 3

Affected Codon

 100

Affected nucleotide

 355

Mutation AA

 A100P

Mutation Nuc

 355G>C

Original-final codons

 GCT>CCT

Affected domain

 A1

Refrence

 -

AA change

 Ala>Pro

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 208

 

   
 

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