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Full registry entry

Patient Id

 UMHA0087

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 19

Affected Codon

 1997

Affected nucleotide

 6047

Mutation AA

 R1997Q

Mutation Nuc

 6047G>A

Original-final codons

 CGG>CAG

Affected domain

 A3

Refrence

 -

AA change

 Arg>Gln

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 38

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 54

 

   
 

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