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Full registry entry

Patient Id

 UMHA0338

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 16

Affected Codon

 1823

Affected nucleotide

 5526

Mutation AA

 M1823I

Mutation Nuc

 5526G>A

Original-final codons

 ATG>ATA

Affected domain

 A3

Refrence

 -

AA change

 Met>Ile 

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 20

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 302

 

   
 

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