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Full registry entry

Patient Id

 UMHA1215

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 18

Affected Codon

 1947

Affected nucleotide

 5896

Mutation AA

 M1947V

Mutation Nuc

 5896A>G

Original-final codons

 ATG>GTG

Affected domain

 A3

Refrence

 -

AA change

 Met>Val

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 778

 

   
 

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