l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 UMHA0172

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 13

Affected Codon

 684

Affected nucleotide

 2108

Mutation AA

 N684S

Mutation Nuc

 2108A>G

Original-final codons

 AAC>AGC

Affected domain

 A2

Refrence

 -

AA change

 Asn>Ser

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 8

FactorAg(%)

 -

Origin

  

ID

 238

 

   
 

Hemobase.com 2009