Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Leu340del (p.L340del), ENSG00000285505 p.Leu327del (p.L327del)
(
ENST00000543770.5,
ENST00000545399.6,
ENST00000602133.5,
ENST00000648268.1 )
ATP1A3 p.Leu340del (p.L340del), ENSG00000285505 p.Leu327del (p.L327del) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp936Tyr (p.D936Y), ENSG00000285505 p.Asp923Tyr (p.D923Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp936Asn (p.D936N), ENSG00000285505 p.Asp923Asn (p.D923N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly880Asp (p.G880D), ENSG00000285505 p.Gly867Asp (p.G867D) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp814Tyr (p.D814Y), ENSG00000285505 p.Asp801Tyr (p.D801Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp814Asn (p.D814N), ENSG00000285505 p.Asp801Asn (p.D801N) ( ENST00000602133.5, ENST00000543770.5, ENST00000545399.6, ENST00000648268.1 )
ATP1A3 p.Phe793Leu (p.F793L), ENSG00000285505 p.Phe780Leu (p.F780L) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile771Ser (p.I771S), ENSG00000285505 p.Ile758Ser (p.I758S) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Arg769His (p.R769H), ENSG00000285505 p.Arg756His (p.R756H) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ser697Phe (p.S697F), ENSG00000285505 p.Ser684Phe (p.S684F) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Thr626Met (p.T626M), ENSG00000285505 p.Thr613Met (p.T613M) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Leu430Pro (p.L430P), ENSG00000285505 p.Leu417Pro (p.L417P) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Trp395Arg (p.W395R), ENSG00000285505 p.Trp382Arg (p.W382R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Thr383Asn (p.T383N), ENSG00000285505 p.Thr370Asn (p.T370N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Glu290Lys (p.E290K), ENSG00000285505 p.Glu277Lys (p.E277K) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile287Thr (p.I287T), ENSG00000285505 p.Ile274Thr (p.I274T) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile287Asn (p.I287N), ENSG00000285505 p.Ile274Asn (p.I274N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp936Tyr (p.D936Y), ENSG00000285505 p.Asp923Tyr (p.D923Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp936Asn (p.D936N), ENSG00000285505 p.Asp923Asn (p.D923N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly880Asp (p.G880D), ENSG00000285505 p.Gly867Asp (p.G867D) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp814Tyr (p.D814Y), ENSG00000285505 p.Asp801Tyr (p.D801Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp814Asn (p.D814N), ENSG00000285505 p.Asp801Asn (p.D801N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Phe793Leu (p.F793L), ENSG00000285505 p.Phe780Leu (p.F780L) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile771Ser (p.I771S), ENSG00000285505 p.Ile758Ser (p.I758S) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Arg769His (p.R769H), ENSG00000285505 p.Arg756His (p.R756H) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ser697Phe (p.S697F), ENSG00000285505 p.Ser684Phe (p.S684F) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Thr626Met (p.T626M), ENSG00000285505 p.Thr613Met (p.T613M) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Leu430Pro (p.L430P), ENSG00000285505 p.Leu417Pro (p.L417P) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Trp395Arg (p.W395R), ENSG00000285505 p.Trp382Arg (p.W382R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Thr383Asn (p.T383N), ENSG00000285505 p.Thr370Asn (p.T370N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Glu290Lys (p.E290K), ENSG00000285505 p.Glu277Lys (p.E277K) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile287Thr (p.I287T), ENSG00000285505 p.Ile274Thr (p.I274T) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile287Asn (p.I287N), ENSG00000285505 p.Ile274Asn (p.I274N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 c.*198_*199insCTC, ENSG00000285505 c.3013+510_3013+511insCTC
ATP1A3 p.? (p.?), ENSG00000285505 c.3013+310_3013+311insACT
ATP1A3 c.*198_*199insCTC, ENSG00000285505 c.3013+510_3013+511insCTC
ATP1A3 p.? (p.?), ENSG00000285505 c.3013+310_3013+311insACT - Associated Disease
- dystonia 12
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.487328930546168
- Year of publication
- NA
Drugs