l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 UMHA0198

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 18

Affected Codon

 1941

Affected nucleotide

 5879

Mutation AA

 R1941Q

Mutation Nuc

 5879G>A

Original-final codons

 CGA>CAA

Affected domain

 A3

Refrence

 -

AA change

 Arg>Gln

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 10-15

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 283

 

   
 

Hemobase.com 2009