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CDKL5, IVSAS13, G-A, -1

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Dec 1, 2004
Accession:
VCV000011495.2
Variation ID:
11495
Description:
single nucleotide variant
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CDKL5, IVSAS13, G-A, -1

Allele ID
26534
Variant type
single nucleotide variant
Variant length
-
Cytogenetic location
Xp22
Genomic location
-
HGVS
-
Protein change
-
Other names
IVSAS13, G-A, -1
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 300203.0002
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 1, 2004 RCV000012250.12
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CDKL5 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
766 1270

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 2004)
no assertion criteria provided
Method: literature only
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2
Allele origin: germline
OMIM
Accession: SCV000032484.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Weaving LS American journal of human genetics 2004 PMID: 15492925

Record last updated Nov 20, 2021