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Full registry entry

Patient Id

 UMHA0481

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 26

Affected Codon

 2300

Affected nucleotide

 6956

Mutation AA

 P2300L

Mutation Nuc

 6956C>T

Original-final codons

 CCC>CTG

Affected domain

 C2

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 373

 

   
 

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