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Full registry entry

Patient Id

 UMHA0346

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 20

Affected Codon

 2041

Affected nucleotide

 6179

Mutation AA

 G2041V

Mutation Nuc

 6179G>T

Original-final codons

 GGA>GTA

Affected domain

 C1

Refrence

 -

AA change

 Gly>Val

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 7-10

FactorAg(%)

 -

Origin

 ?

ID

 303

 

   
 

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