Annotation Detail
Information
- Associated Genes
- KDM6A
- Associated Variants
-
KDM6A p.Trp251Ter (p.W251*)
(
ENST00000543216.6,
ENST00000377967.9,
ENST00000382899.9,
ENST00000536777.6,
ENST00000611820.5,
ENST00000674586.1,
ENST00000674867.1,
ENST00000683021.1 )
KDM6A p.Trp251Ter (p.W251*) ( 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.752G>A (p.Trp251Ter) AND Kabuki syndrome 2
- ClinVar Allele ID
- 181481
- ClinVar RefSeq Alternation Syntax
- NM_001291418.2:c.752G>A
- ClinVar RefSeq Alternation Syntax
- NR_111960.2:n.1116G>A
- ClinVar RefSeq Alternation Syntax
- NM_001419813.1:c.752G>A
- ClinVar RefSeq Alternation Syntax
- NM_001419811.1:c.752G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291416.2:c.752G>A
- ClinVar RefSeq Alternation Syntax
- NM_001419815.1:c.752G>A
- ClinVar RefSeq Alternation Syntax
- NM_001410742.1:c.752G>A
- ClinVar RefSeq Alternation Syntax
- NM_021140.4:c.752G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291421.2:c.-2G>A
- ClinVar RefSeq Alternation Syntax
- NM_001419809.1:c.752G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291417.2:c.752G>A
- ClinVar RefSeq Alternation Syntax
- NM_001419812.1:c.752G>A
- ClinVar RefSeq Alternation Syntax
- NM_001419814.1:c.752G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291415.2:c.752G>A
- ClinVar RefSeq Alternation Syntax
- NM_001419810.1:c.752G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-02-04
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000172945
- ClinVar Disease
- Kabuki syndrome 2
- Observed Origin Sample
- unknown
Drugs