Annotation Detail
Information
- Associated Genes
- PAX6
- Associated Variants
-
PAX6 p.Val16SerfsTer15 (p.V16Sfs*15)
(
ENST00000639548.1,
ENST00000640610.1,
ENST00000640125.1,
ENST00000640975.1,
ENST00000639034.2,
ENST00000638963.1,
ENST00000638965.1,
ENST00000379129.7,
ENST00000638629.1,
ENST00000379107.7,
ENST00000640684.1,
ENST00000639386.2,
ENST00000379109.7,
ENST00000241001.13,
ENST00000639916.1,
ENST00000419022.6,
ENST00000379132.8,
ENST00000606377.7,
ENST00000481563.6,
ENST00000643871.1,
ENST00000638696.1,
ENST00000638755.1,
ENST00000638914.3,
ENST00000640368.2,
ENST00000639409.1,
ENST00000638685.1 )
PAX6 p.Val16SerfsTer15 (p.V16Sfs*15) ( ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 p.Lys373Ter (p.K373*) ( ENST00000379107.7, ENST00000241001.13, ENST00000638965.1, ENST00000638963.1, ENST00000640975.1, ENST00000640125.1, ENST00000638755.1, ENST00000638914.3, ENST00000638696.1, ENST00000638685.1, ENST00000640368.2, ENST00000639409.1, ENST00000639916.1, ENST00000419022.6, ENST00000481563.6, ENST00000643871.1, ENST00000379132.8, ENST00000606377.7, ENST00000639386.2, ENST00000638629.1, ENST00000640961.2, ENST00000379109.7, ENST00000379129.7, ENST00000639548.1, ENST00000640610.1 )
PAX6 c.1033-843A>G ( ENST00000638963.1, ENST00000638965.1, ENST00000379129.7, ENST00000640610.1, ENST00000639548.1, ENST00000640125.1, ENST00000640975.1, ENST00000638914.3, ENST00000638755.1, ENST00000638696.1, ENST00000638685.1, ENST00000639409.1, ENST00000640368.2, ENST00000639386.2, ENST00000379107.7, ENST00000638629.1, ENST00000241001.13, ENST00000379109.7, ENST00000419022.6, ENST00000639916.1, ENST00000481563.6, ENST00000643871.1, ENST00000606377.7, ENST00000379132.8 )
PAX6 p.Arg242Thr (p.R242T) ( ENST00000638755.1, ENST00000638914.3, ENST00000638696.1, ENST00000638685.1, ENST00000640368.2, ENST00000639409.1, ENST00000640684.1, ENST00000639386.2, ENST00000638629.1, ENST00000379107.7, ENST00000241001.13, ENST00000379109.7, ENST00000639916.1, ENST00000419022.6, ENST00000481563.6, ENST00000643871.1, ENST00000379132.8, ENST00000606377.7, ENST00000638963.1, ENST00000639034.2, ENST00000638965.1, ENST00000379129.7, ENST00000639548.1, ENST00000640610.1, ENST00000640125.1, ENST00000640975.1 )
PAX6 p.Arg240Ter (p.R240*) ( ENST00000379109.7, ENST00000379107.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000241001.13, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 p.Arg203Ter (p.R203*) ( ENST00000379132.8, ENST00000379109.7, ENST00000379107.7, ENST00000379129.7, ENST00000241001.13, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 p.Gln136Ter (p.Q136*) ( ENST00000639034.2, ENST00000638963.1, ENST00000638965.1, ENST00000379129.7, ENST00000639548.1, ENST00000640610.1, ENST00000640125.1, ENST00000640975.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000640368.2, ENST00000639409.1, ENST00000638685.1, ENST00000638629.1, ENST00000379107.7, ENST00000640684.1, ENST00000639386.2, ENST00000379109.7, ENST00000241001.13, ENST00000639916.1, ENST00000419022.6, ENST00000379132.8, ENST00000606377.7, ENST00000481563.6, ENST00000643871.1 )
PAX6 c.357+1G>A ( ENST00000481563.6, ENST00000419022.6, ENST00000379132.8, ENST00000241001.13, ENST00000379107.7, ENST00000379129.7, ENST00000379109.7, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 p.Ser119Arg (p.S119R) ( ENST00000640975.1, ENST00000640610.1, ENST00000639548.1, ENST00000640125.1, ENST00000638965.1, ENST00000379129.7, ENST00000638963.1, ENST00000639034.2, ENST00000639916.1, ENST00000419022.6, ENST00000481563.6, ENST00000643871.1, ENST00000379132.8, ENST00000606377.7, ENST00000640684.1, ENST00000639386.2, ENST00000379107.7, ENST00000638629.1, ENST00000241001.13, ENST00000379109.7, ENST00000638914.3, ENST00000638755.1, ENST00000638696.1, ENST00000638685.1, ENST00000639409.1, ENST00000640368.2 )
PAX6 p.Arg103Ter (p.R103*) ( ENST00000379132.8, ENST00000481563.6, ENST00000379107.7, ENST00000379129.7, ENST00000379109.7, ENST00000241001.13, ENST00000419022.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 p.Arg38Trp (p.R38W) ( ENST00000419022.6, ENST00000639916.1, ENST00000481563.6, ENST00000643871.1, ENST00000606377.7, ENST00000379132.8, ENST00000639386.2, ENST00000640684.1, ENST00000379107.7, ENST00000638629.1, ENST00000241001.13, ENST00000379109.7, ENST00000638914.3, ENST00000638755.1, ENST00000638696.1, ENST00000638685.1, ENST00000639409.1, ENST00000640368.2, ENST00000640975.1, ENST00000640610.1, ENST00000639548.1, ENST00000640125.1, ENST00000638965.1, ENST00000379129.7, ENST00000638963.1, ENST00000639034.2 )
PAX6 p.Arg26Gly (p.R26G) ( ENST00000639548.1, ENST00000640610.1, ENST00000640125.1, ENST00000640975.1, ENST00000638963.1, ENST00000639034.2, ENST00000638965.1, ENST00000379129.7, ENST00000639386.2, ENST00000640684.1, ENST00000638629.1, ENST00000379107.7, ENST00000241001.13, ENST00000379109.7, ENST00000419022.6, ENST00000639916.1, ENST00000481563.6, ENST00000643871.1, ENST00000606377.7, ENST00000379132.8, ENST00000638755.1, ENST00000638914.3, ENST00000638696.1, ENST00000638685.1, ENST00000640368.2, ENST00000639409.1 )
PAX6 p.Lys373Ter (p.K373*) ( ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640975.1, ENST00000643871.1, ENST00000640961.2 )
PAX6 c.1033-843A>G ( ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 p.Arg242Thr (p.R242T) ( ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 p.Arg240Ter (p.R240*) ( ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 p.Arg203Ter (p.R203*) ( ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1, ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1 )
PAX6 p.Gln136Ter (p.Q136*) ( ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 c.357+1G>A ( ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 p.Ser119Arg (p.S119R) ( ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 p.Arg103Ter (p.R103*) ( ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 p.Arg38Trp (p.R38W) ( ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 p.Arg26Gly (p.R26G) ( ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 )
PAX6 p.Leu365IlefsTer46 (p.L365Ifs*46)
PAX6 p.Ile299ThrfsTer47 (p.I299Tfs*47)
PAX6 p.Leu365IlefsTer46 (p.L365Ifs*46)
PAX6 p.Ile299ThrfsTer47 (p.I299Tfs*47) - Associated Disease
- aniridia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.60616498129698
- Year of publication
- NA
Drugs