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Full registry entry

Patient Id

 URHA020

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 4

Affected Codon

 174

Affected nucleotide

 577

Mutation AA

 G174R

Mutation Nuc

 577G>A

Original-final codons

 GGA >AGA

Affected domain

 A1

Refrence

 -

AA change

 Gly > Arg

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 93

 

   
 

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