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Full registry entry

Patient Id

 URHA176

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 18

Affected Codon

 1966

Affected nucleotide

 5954

Mutation AA

 R1966Q

Mutation Nuc

 5954G>A

Original-final codons

 CGA>CAA

Affected domain

 A3

Refrence

 -

AA change

 Arg>Gln

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 20

FactorAg(%)

 -

Origin

 ?

ID

 138

 

   
 

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