Annotation Detail
Information
- Associated Genes
- ANO5
- Associated Variants
-
ANO5 p.His725Ter (p.H725*)
(
ENST00000684663.1,
ENST00000682266.1,
ENST00000683197.1,
ENST00000324559.9,
ENST00000683411.1,
ENST00000682341.1,
ENST00000683437.1 )
ANO5 p.His725Ter (p.H725*) ( ENST00000324559.9, ENST00000682266.1, ENST00000682341.1, ENST00000683197.1, ENST00000683411.1, ENST00000683437.1, ENST00000684663.1 )
ANO5 c.41-1G>A ( ENST00000683197.1, ENST00000682266.1, ENST00000324559.9, ENST00000683411.1, ENST00000682341.1, ENST00000683437.1, ENST00000684663.1 )
ANO5 p.Asn52Ser (p.N52S) ( ENST00000682266.1, ENST00000683197.1, ENST00000324559.9, ENST00000683411.1, ENST00000682341.1, ENST00000683437.1, ENST00000684663.1 )
ANO5 p.Arg58Gly (p.R58G) ( ENST00000683197.1, ENST00000682266.1, ENST00000324559.9, ENST00000683411.1, ENST00000683437.1, ENST00000682341.1, ENST00000684663.1 )
ANO5 p.Arg58Trp (p.R58W) ( ENST00000683197.1, ENST00000682266.1, ENST00000324559.9, ENST00000683411.1, ENST00000683437.1, ENST00000682341.1, ENST00000684663.1 )
ANO5 p.Gly231Val (p.G231V) ( ENST00000683437.1, ENST00000682341.1, ENST00000683411.1, ENST00000324559.9, ENST00000682266.1, ENST00000683197.1, ENST00000684663.1 )
ANO5 p.Ala432Gly (p.A432G) ( ENST00000324559.9, ENST00000683197.1, ENST00000682266.1, ENST00000683437.1, ENST00000682341.1, ENST00000683411.1, ENST00000684663.1 )
ANO5 p.Ser570Leu (p.S570L) ( ENST00000684663.1, ENST00000683411.1, ENST00000683437.1, ENST00000682341.1, ENST00000682266.1, ENST00000683197.1, ENST00000324559.9 )
ANO5 p.Arg758Cys (p.R758C) ( ENST00000683411.1, ENST00000682341.1, ENST00000683437.1, ENST00000683197.1, ENST00000682266.1, ENST00000324559.9, ENST00000684663.1 )
ANO5 c.41-1G>A ( ENST00000324559.9, ENST00000682266.1, ENST00000682341.1, ENST00000683197.1, ENST00000683411.1, ENST00000683437.1, ENST00000684663.1 )
ANO5 p.Asn52Ser (p.N52S) ( ENST00000324559.9, ENST00000682266.1, ENST00000682341.1, ENST00000683197.1, ENST00000683411.1, ENST00000683437.1, ENST00000684663.1 )
ANO5 p.Arg58Gly (p.R58G) ( ENST00000324559.9, ENST00000682266.1, ENST00000682341.1, ENST00000683197.1, ENST00000683411.1, ENST00000683437.1, ENST00000684663.1 )
ANO5 p.Arg58Trp (p.R58W) ( ENST00000324559.9, ENST00000682266.1, ENST00000682341.1, ENST00000683197.1, ENST00000683411.1, ENST00000683437.1, ENST00000684663.1 )
ANO5 p.Gly231Val (p.G231V) ( ENST00000324559.9, ENST00000682266.1, ENST00000682341.1, ENST00000683197.1, ENST00000683411.1, ENST00000683437.1, ENST00000684663.1 )
ANO5 p.Ala432Gly (p.A432G) ( ENST00000324559.9, ENST00000682266.1, ENST00000682341.1, ENST00000683197.1, ENST00000683411.1, ENST00000683437.1, ENST00000684663.1 )
ANO5 p.Ser570Leu (p.S570L) ( ENST00000324559.9, ENST00000682266.1, ENST00000682341.1, ENST00000683197.1, ENST00000683411.1, ENST00000683437.1, ENST00000684663.1 )
ANO5 p.Arg758Cys (p.R758C) ( ENST00000324559.9, ENST00000682266.1, ENST00000682341.1, ENST00000683197.1, ENST00000683411.1, ENST00000683437.1, ENST00000684663.1 )
ANO5 p.Asn64LysfsTer15 (p.N64Kfs*15)
ANO5 p.Leu330PhefsTer6 (p.L330Ffs*6)
ANO5 p.Ser726LysfsTer20 (p.S726Kfs*20)
ANO5 p.Asn64LysfsTer15 (p.N64Kfs*15)
ANO5 p.Leu330PhefsTer6 (p.L330Ffs*6)
ANO5 p.Ser726LysfsTer20 (p.S726Kfs*20) - Associated Disease
- Miyoshi muscular dystrophy 3
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- NA
Drugs