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Full registry entry

Patient Id

 URHA039

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 1698

Affected nucleotide

 5150

Mutation AA

 Y1698C

Mutation Nuc

 5150A>G

Original-final codons

 TAT>TGT

Affected domain

 A3

Refrence

 -

AA change

 Tyr>Cys

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 ?

ID

 102

 

   
 

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