l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 UMHA0009

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 5

Affected Codon

 196

Affected nucleotide

 645

Mutation AA

 I196M

Mutation Nuc

 645A>G

Original-final codons

 ATA>ATG

Affected domain

 A1

Refrence

 -

AA change

 Ile >Met

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 226

 

   
 

Hemobase.com 2009