l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Hemophilia B mutations by region

Mutations by region

exon_8 intron_7 exon_7 intron_6 exon_6 intron_5 exon_5 intron_4 exon_4 intron_3 exon_3 intron_2 exon_2 intron_1 exon_1
Press on the corresponding genic region  to see the  mutations included in the database.

..............................................................

Mutations by type
Deletions
Duplications
Insertions
Sustitutions
Mutations by severity
Severe

Moderate

Mild

?

Advanced search

Mutation type Mutation effect Region Exon intron number Mutation Severity ID
DELETION FRAMESHIFT EXON 2 6394delG SEVERE 757
DELETION   EXON 2 6394delG SEVERE 472
SUSTITUTION MISSENSE EXON 2 6364C>T SEVERE 768
SUSTITUTION MISSENSE EXON 2 6364C>G MODERATE 764
SUSTITUTION MISSENSE EXON 2 6424G>A ? 760
SUSTITUTION MISSENSE EXON 2 6364C>T SEVERE 407
SUSTITUTION MISSENSE EXON 2 6365G>A MILD 405
SUSTITUTION MISSENSE EXON 2 6365G>A SEVERE 41
SUSTITUTION NONSENSE EXON 2 6383C>G MODERATE 37
SUSTITUTION MISSENSE EXON 2 6404T>A MODERATE 36
SUSTITUTION MISSENSE EXON 2 6394G>A ? 18
SUSTITUTION NONSENSE EXON 2 6460C>T SEVERE 4
   
 

Hemobase.com 2009