Annotation Detail
Information
- Associated Genes
- KDM6A
- Associated Variants
-
KDM6A p.Ser689ThrfsTer53 (p.S689Tfs*53)
(
ENST00000543216.6,
ENST00000382899.9,
ENST00000536777.6,
ENST00000611820.5,
ENST00000674586.1,
ENST00000674867.1,
ENST00000683021.1,
ENST00000377967.9 )
KDM6A p.Ser689ThrfsTer53 (p.S689Tfs*53) ( ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 ) - Associated Disease
- Kabuki syndrome 2
- Source Database
- ClinVar
- Description
- NM_001291415.2(KDM6A):c.2065_2068del (p.Ser689fs) AND Kabuki syndrome 2
- ClinVar Allele ID
- 96880
- ClinVar RefSeq Alternation Syntax
- NM_001291416.2:c.1930_1933del
- ClinVar RefSeq Alternation Syntax
- NM_001291418.2:c.1672_1675del
- ClinVar RefSeq Alternation Syntax
- NM_021140.4:c.1909_1912del
- ClinVar RefSeq Alternation Syntax
- NM_001291415.2:c.2065_2068del
- ClinVar RefSeq Alternation Syntax
- NM_001291417.2:c.1774_1777del
- ClinVar RefSeq Alternation Syntax
- NM_001291421.2:c.1021_1024del
- ClinVar RefSeq Alternation Syntax
- NR_111960.2:n.2192_2195del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000076920
- ClinVar Disease
- Kabuki syndrome 2
- Observed Origin Sample
- germline
- Pubmed
- 23913813
Drugs