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Full registry entry

Patient Id

 UMHA0200

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 19

Affected Codon

 1997

Affected nucleotide

 6046

Mutation AA

 R1997W

Mutation Nuc

 6046C>T

Original-final codons

 CGG>TGG

Affected domain

 A3

Refrence

 -

AA change

 Arg>Trp

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 ?

ID

 284

 

   
 

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