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Full registry entry

Patient Id

 UMHA0117

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 23

Affected Codon

 2150

Affected nucleotide

 6506

Mutation AA

 R2150H

Mutation Nuc

 6506G>A

Original-final codons

 CGT>CAT

Affected domain

 C1

Refrence

 -

AA change

 Arg>His

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 ?

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 63

 

   
 

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