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Full registry entry

Patient Id

 UMHA1085

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 22

Affected Codon

 2116

Affected nucleotide

 6403

Mutation AA

 R2116X

Mutation Nuc

 6403C>T

Original-final codons

 CGA>TGA

Affected domain

 C1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

  

ID

 724

 

   
 

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