Annotation Detail
Information
- Associated Genes
- KDM6A
- Associated Variants
-
KDM6A p.Val567LeufsTer33 (p.V567Lfs*33)
(
ENST00000377967.9,
ENST00000382899.9,
ENST00000536777.6,
ENST00000543216.6,
ENST00000611820.5,
ENST00000674586.1,
ENST00000674867.1,
ENST00000683021.1 )
KDM6A p.Ser689ThrfsTer53 (p.S689Tfs*53) ( ENST00000543216.6, ENST00000382899.9, ENST00000536777.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1, ENST00000377967.9 )
KDM6A p.Asn891ValfsTer27 (p.N891Vfs*27) ( ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A p.Leu1171del (p.L1171del) ( ENST00000377967.9, ENST00000536777.6, ENST00000543216.6, ENST00000382899.9, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A p.Val567LeufsTer33 (p.V567Lfs*33) ( ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A p.Ser689ThrfsTer53 (p.S689Tfs*53) ( ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A p.Asn891ValfsTer27 (p.N891Vfs*27) ( ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A p.Leu1171del (p.L1171del) ( ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A p.Trp251Ter (p.W251*) ( ENST00000543216.6, ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A p.Arg571Ter (p.R571*) ( ENST00000543216.6, ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A p.Gln1264Arg (p.Q1264R) ( ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A p.Trp1291Ter (p.W1291*) ( ENST00000536777.6, ENST00000543216.6, ENST00000382899.9, ENST00000377967.9, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A c.3892+2T>C ( ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1, ENST00000377967.9, ENST00000382899.9, ENST00000536777.6 )
KDM6A p.Trp251Ter (p.W251*) ( ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A p.Arg571Ter (p.R571*) ( ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A p.Gln1264Arg (p.Q1264R) ( ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A p.Trp1291Ter (p.W1291*) ( ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A c.3892+2T>C ( ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 )
KDM6A c.2988+2_2988+3insT
KDM6A c.2988+2_2988+3insT - Associated Disease
- Kabuki syndrome 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs