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Full registry entry

Patient Id

 UMHA1280

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 22

Affected Codon

 2124

Affected nucleotide

 6427

Mutation AA

 M2124V

Mutation Nuc

 6427A>G

Original-final codons

 ATG>GTG

Affected domain

 C1

Refrence

 -

AA change

 Met>Val

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 792

 

   
 

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