Annotation Detail
Information
- Associated Genes
- KDM6A
- Associated Variants
-
KDM6A p.Asn891ValfsTer27 (p.N891Vfs*27)
(
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 ) - Associated Disease
- Kabuki syndrome 2
- Source Database
- ClinVar
- Description
- NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs) AND Kabuki syndrome 2
- ClinVar Allele ID
- 188071
- ClinVar RefSeq Alternation Syntax
- NM_001291415.2:c.2671_2674del
- ClinVar RefSeq Alternation Syntax
- NR_111960.2:n.2798_2801del
- ClinVar RefSeq Alternation Syntax
- NM_001291418.2:c.2278_2281del
- ClinVar RefSeq Alternation Syntax
- NM_021140.4:c.2515_2518del
- ClinVar RefSeq Alternation Syntax
- NM_001291416.2:c.2536_2539del
- ClinVar RefSeq Alternation Syntax
- NM_001291421.2:c.1627_1630del
- ClinVar RefSeq Alternation Syntax
- NM_001291417.2:c.2380_2383del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000170468
- ClinVar Disease
- Kabuki syndrome 2
- Observed Origin Sample
- germline
- Pubmed
- 24664873
Drugs