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Full registry entry

Patient Id

 UMHA1222

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 20

Affected Codon

 2040

Affected nucleotide

 6175

Mutation AA

 S2040P

Mutation Nuc

 6175T>C

Original-final codons

 TCA>CCA

Affected domain

 C1

Refrence

 -

AA change

 Ser>Pro

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 19

FactorAg(%)

 -

Origin

 ?

ID

 779

 

   
 

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