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Full registry entry

Patient Id

 UMHA1289

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 19

Affected Codon

 2003

Affected nucleotide

 6066

Mutation AA

 G2003G

Mutation Nuc

 6066C>T

Original-final codons

 GGC>GGT

Affected domain

 A3

Refrence

 -

AA change

 Gly>Gly

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 25

FactorAg(%)

 -

Origin

 ?

ID

 795

 

   
 

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