Annotation Detail
Information
- Associated Genes
- KDM6A
- Associated Variants
-
KDM6A c.3892+2T>C
(
ENST00000543216.6,
ENST00000611820.5,
ENST00000674586.1,
ENST00000674867.1,
ENST00000683021.1,
ENST00000377967.9,
ENST00000382899.9,
ENST00000536777.6 )
KDM6A c.3892+2T>C ( 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.3892+2T>C AND Kabuki syndrome 2
- ClinVar Allele ID
- 181482
- ClinVar RefSeq Alternation Syntax
- NM_001410742.1:c.3634+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001291416.2:c.3757+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001291417.2:c.3601+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_021140.4:c.3736+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001291415.2:c.3892+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001291421.2:c.2848+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001291418.2:c.3499+2T>C
- 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/RCV000172946
- ClinVar Disease
- Kabuki syndrome 2
- Observed Origin Sample
- unknown
Drugs