Annotation Detail
Information
- Associated Genes
- ATP7A
- Associated Variants
-
ATP7A p.Ser637Ter (p.S637*)
(
ENST00000341514.11,
ENST00000343533.10,
ENST00000685264.1,
ENST00000686033.1,
ENST00000686133.1,
ENST00000686480.1,
ENST00000686543.1,
ENST00000686688.1,
ENST00000687086.1,
ENST00000689649.1,
ENST00000689767.1,
ENST00000692908.1,
ENST00000693398.1,
ENST00000644362.1 )
ATP7A p.Ser637Leu (p.S637L) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Asn1304Ser (p.N1304S) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 )
ATP7A p.Ser637Ter (p.S637*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Ser637Leu (p.S637L) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 )
ATP7A p.Asn1304Ser (p.N1304S) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 ) - Associated Disease
- Cutis laxa, X-linked
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.485428837441606
- Year of publication
- NA
Drugs