Annotation Detail
Information
- Associated Genes
- KDM6A
- Associated Variants
-
KDM6A p.Trp1291Ter (p.W1291*)
(
ENST00000536777.6,
ENST00000543216.6,
ENST00000382899.9,
ENST00000377967.9,
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 ) - Associated Disease
- Kabuki syndrome 2
- Source Database
- ClinVar
- Description
- NM_001291415.2(KDM6A):c.3873G>A (p.Trp1291Ter) AND Kabuki syndrome 2
- ClinVar Allele ID
- 48505
- ClinVar RefSeq Alternation Syntax
- NM_001291421.2:c.2829G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291416.2:c.3738G>A
- ClinVar RefSeq Alternation Syntax
- NM_021140.4:c.3717G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291415.2:c.3873G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291417.2:c.3582G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291418.2:c.3480G>A
- ClinVar RefSeq Alternation Syntax
- NR_111960.2:n.4000G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000033119
- ClinVar Disease
- Kabuki syndrome 2
- Observed Origin Sample
- germline
- Pubmed
- 23076834
Drugs