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Full registry entry

Patient Id

 UMHA0407

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 13

Affected Codon

 625

Affected nucleotide

 1930

Mutation AA

 L625V

Mutation Nuc

 1930T>G

Original-final codons

 TTG>GTG

Affected domain

 A2

Refrence

 -

AA change

 Leu>Val

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 8

FactorAg(%)

 -

Origin

 ?

ID

 299

 

   
 

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