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Full registry entry

Patient Id

 UMHA0479

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 23

Affected Codon

 2159

Affected nucleotide

 6532

Mutation AA

 R2159C

Mutation Nuc

 6532C>T

Original-final codons

 CGC>TGC

Affected domain

 C1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 15

FactorAg(%)

 -

Origin

  

ID

 364

 

   
 

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