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Full registry entry

Patient Id

 UMHA1191

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 4

Affected Codon

 173

Affected nucleotide

 575

Mutation AA

 I173T

Mutation Nuc

 575T>C

Original-final codons

 ATT>ACT

Affected domain

 A1

Refrence

 -

AA change

 Ile >Thr

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 40

FactorAg(%)

 -

Origin

 ?

ID

 772

 

   
 

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