Annotation Detail
Information
- Associated Genes
- KDM5C
- Associated Variants
-
KDM5C p.Gly452Ser (p.G452S)
(
ENST00000452825.7,
ENST00000375383.7,
ENST00000404049.7,
ENST00000375379.7,
ENST00000375401.8,
ENST00000685641.1,
ENST00000688699.1,
ENST00000691505.1,
ENST00000693277.1 )
KDM5C p.Gly452Ser (p.G452S) ( ENST00000375379.7, ENST00000375383.7, ENST00000375401.8, ENST00000404049.7, ENST00000452825.7, ENST00000685641.1, ENST00000688699.1, ENST00000691505.1, ENST00000693277.1 ) - Associated Disease
- syndromic X-linked intellectual disability Claes-Jensen type
- Source Database
- ClinVar
- Description
- NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser) AND Syndromic X-linked intellectual disability Claes-Jensen type
- ClinVar Allele ID
- 861663
- ClinVar RefSeq Alternation Syntax
- NM_001353981.2:c.1354G>A
- ClinVar RefSeq Alternation Syntax
- NM_001282622.3:c.1351G>A
- ClinVar RefSeq Alternation Syntax
- NM_001353982.2:c.1351G>A
- ClinVar RefSeq Alternation Syntax
- NM_004187.5:c.1354G>A
- ClinVar RefSeq Alternation Syntax
- NM_001146702.2:c.1153G>A
- ClinVar RefSeq Alternation Syntax
- NM_001353978.3:c.1354G>A
- ClinVar RefSeq Alternation Syntax
- NM_001353979.2:c.1351G>A
- ClinVar RefSeq Alternation Syntax
- NR_148673.2:n.1669G>A
- ClinVar RefSeq Alternation Syntax
- NR_148674.2:n.1549G>A
- ClinVar RefSeq Alternation Syntax
- NM_001353984.2:c.1354G>A
- ClinVar RefSeq Alternation Syntax
- NR_148672.2:n.1672G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-01-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001095789
- ClinVar Disease
- Syndromic X-linked intellectual disability Claes-Jensen type
- Observed Origin Sample
- unknown
Drugs