Annotation Detail
Information
- Associated Genes
- EYA1
- Associated Variants
-
EYA1 p.Lys594AsnfsTer73 (p.K594Nfs*73)
(
ENST00000303824.11,
ENST00000340726.8,
ENST00000388740.4,
ENST00000388741.7,
ENST00000388742.8,
ENST00000388743.6,
ENST00000419131.6,
ENST00000643681.1,
ENST00000644229.1,
ENST00000644712.1,
ENST00000645793.1,
ENST00000647540.1 )
EYA1 p.Leu403PhefsTer6 (p.L403Ffs*6) ( ENST00000303824.11, ENST00000340726.8, ENST00000388741.7, ENST00000419131.6, ENST00000388742.8, ENST00000388740.4, ENST00000388743.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Lys594AsnfsTer73 (p.K594Nfs*73) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Leu403PhefsTer6 (p.L403Ffs*6) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Leu612Pro (p.L612P) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Tyr556Asn (p.Y556N) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Leu534Arg (p.L534R) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 c.1562+1G>C ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Ser516Pro (p.S516P) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 c.1448-1G>T ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Arg469Gln (p.R469Q) ( ENST00000388743.6, ENST00000388742.8, ENST00000303824.11, ENST00000388741.7, ENST00000340726.8, ENST00000388740.4, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Arg390Ter (p.R390*) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 c.1053+5G>A ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Arg337Ter (p.R337*) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Arg337Gly (p.R337G) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Trp172Leu (p.W172L) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Trp172Ter (p.W172*) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Leu612Pro (p.L612P) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Tyr556Asn (p.Y556N) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Leu534Arg (p.L534R) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 c.1562+1G>C ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Ser516Pro (p.S516P) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 c.1448-1G>T ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Arg469Gln (p.R469Q) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Arg390Ter (p.R390*) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 c.1053+5G>A ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Arg337Ter (p.R337*) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Arg337Gly (p.R337G) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Trp172Leu (p.W172L) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 p.Trp172Ter (p.W172*) ( ENST00000303824.11, ENST00000340726.8, ENST00000388740.4, ENST00000388741.7, ENST00000388742.8, ENST00000388743.6, ENST00000419131.6, ENST00000643681.1, ENST00000644229.1, ENST00000644712.1, ENST00000645793.1, ENST00000647540.1 )
EYA1 c.1784_1785insT
EYA1 c.1784_1785insT - Associated Disease
- Branchio-Oto-Renal Syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.584479426095548
- Year of publication
- NA
Drugs