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Full registry entry

Patient Id

 UMHA1278

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 13

Affected Codon

 677

Affected nucleotide

 2087

Mutation AA

 T677N

Mutation Nuc

 2087C>A

Original-final codons

 ACT>AAT

Affected domain

 A2

Refrence

 -

AA change

 Thr>Asn

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 791

 

   
 

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