l Site map 

 

 Spanish English

Home HA mutations HB mutations Contributions Links
 

Hemophilia B mutations by type

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 REARRANGEMENT - - - SEVERE 804
DELETION TOTAL GENE LACK - 1-8 - SEVERE 319
DELETION TOTAL GENE LACK - 1-8 - SEVERE 318
DELETION TOTAL GENE LACK - 1-8 - SEVERE 9
DELETION FRAMESHIFT EXON 2 6394delG SEVERE 757
DELETION   EXON 2 6394delG SEVERE 472
DELETION SPLICING ERROR INTRON 2 IVS2+3-6delGAGT MODERATE 360
DELETION   EXON 4 10479-10484del ? 806
DELETION FRAMESHIFT EXON 5-8 - SEVERE 13
DELETION AMINOACID DELETION EXON 8 31113-31115delTTG SEVERE 8
   
 

© Hemobase.com 2009