Annotation Detail
Information
- Associated Genes
- GLA
- Associated Variants
-
GLA MUTATION
GLA MUTATION
GLA p.Gln327Lys (p.Q327K), RPL36A-HNRNPH2 c.300+2933G>T ( ENST00000409170.3, ENST00000409338.5, ENST00000218516.4, ENST00000649178.1, ENST00000674634.2, ENST00000675592.1, ENST00000676156.1, ENST00000710365.1 )
GLA p.Gln327Lys (p.Q327K), RPL36A-HNRNPH2 c.300+2933G>T ( ENST00000218516.4, ENST00000649178.1, ENST00000674634.2, ENST00000675592.1, ENST00000676156.1, ENST00000710365.1, ENST00000409170.3, ENST00000409338.5 ) - Associated Disease
- Fabry disease
- Source Database
- DisGeNET
- Description
- Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
- Pubmed
- 10208848
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.664863403274564
- Year of publication
- 1999
Drugs