Annotation Detail
Information
- Associated Genes
- KDM6A
- Associated Variants
-
KDM6A p.Gln1264Arg (p.Q1264R)
(
ENST00000377967.9,
ENST00000382899.9,
ENST00000536777.6,
ENST00000543216.6,
ENST00000611820.5,
ENST00000674586.1,
ENST00000674867.1,
ENST00000683021.1 )
KDM6A p.Gln1264Arg (p.Q1264R) ( ENST00000377967.9, ENST00000382899.9, ENST00000536777.6, ENST00000543216.6, ENST00000611820.5, ENST00000674586.1, ENST00000674867.1, ENST00000683021.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg) AND not provided
- ClinVar Allele ID
- 209053
- ClinVar RefSeq Alternation Syntax
- NM_001291418.2:c.3398A>G
- ClinVar RefSeq Alternation Syntax
- NM_001291421.2:c.2747A>G
- ClinVar RefSeq Alternation Syntax
- NR_111960.2:n.3918A>G
- ClinVar RefSeq Alternation Syntax
- NM_001291417.2:c.3500A>G
- ClinVar RefSeq Alternation Syntax
- NM_021140.4:c.3635A>G
- ClinVar RefSeq Alternation Syntax
- NM_001291416.2:c.3656A>G
- ClinVar RefSeq Alternation Syntax
- NM_001291415.2:c.3791A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-10-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000493253
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs