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Full registry entry

Patient Id

 UMHA1239

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 5

Affected Codon

 201

Affected nucleotide

 659

Mutation AA

 V201G

Mutation Nuc

 659T>G

Original-final codons

 GTA>GGA

Affected domain

 A1

Refrence

 -

AA change

 Val>Gly

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 780

 

   
 

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