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Full registry entry

Patient Id

 URHA090

Inhibitors

 FAMILIAR

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

 FAMILIAR

ID

 121

 

   
 

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