Annotation Detail
Information
- Associated Genes
- GLA
- Associated Variants
-
GLA MUTATION
GLA MUTATION
GLA p.Ser297Phe (p.S297F), RPL36A-HNRNPH2 c.300+3022G>A ( ENST00000409338.5, ENST00000218516.4, ENST00000409170.3, ENST00000649178.1, ENST00000674634.2, ENST00000675592.1, ENST00000676156.1, ENST00000710365.1 )
GLA p.Asp266Val (p.D266V), RPL36A-HNRNPH2 c.300+3332T>A ( ENST00000409170.3, ENST00000409338.5, ENST00000218516.4, ENST00000649178.1, ENST00000674634.2, ENST00000675592.1, ENST00000676156.1, ENST00000710365.1 )
GLA p.Trp162Arg (p.W162R), RPL36A-HNRNPH2 c.300+6238A>G ( ENST00000218516.4, ENST00000649178.1, ENST00000674634.2, ENST00000675592.1, ENST00000676156.1, ENST00000710365.1, ENST00000409170.3, ENST00000409338.5 )
GLA p.Ser297Phe (p.S297F), RPL36A-HNRNPH2 c.300+3022G>A ( ENST00000218516.4, ENST00000649178.1, ENST00000674634.2, ENST00000675592.1, ENST00000676156.1, ENST00000710365.1, ENST00000409170.3, ENST00000409338.5 )
GLA p.Asp266Val (p.D266V), RPL36A-HNRNPH2 c.300+3332T>A ( ENST00000218516.4, ENST00000649178.1, ENST00000674634.2, ENST00000675592.1, ENST00000676156.1, ENST00000710365.1, ENST00000409170.3, ENST00000409338.5 )
GLA p.Trp162Arg (p.W162R), RPL36A-HNRNPH2 c.300+6238A>G ( ENST00000218516.4, ENST00000649178.1, ENST00000674634.2, ENST00000675592.1, ENST00000676156.1, ENST00000710365.1, ENST00000409170.3, ENST00000409338.5 ) - Associated Disease
- Fabry disease
- Source Database
- DisGeNET
- Description
- Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
- Pubmed
- 7504405
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.664863403274564
- Year of publication
- 1993
Drugs