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Full registry entry

Patient Id

 URHA119

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 19 i 23

Affected Codon

 1997, 2171

Affected nucleotide

 6047, 6568

Mutation AA

 R1997L, L2171V

Mutation Nuc

 6047G>T, 6568T>G

Original-final codons

 CGG>CTG, TTA>GTA

Affected domain

 -

Refrence

 -

AA change

 Arg>Leu, Leu>Val

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 6

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 131

 

   
 

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