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NM_001323289.2(CDKL5):c.183del (p.Met63fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
3 (Most recent: Nov 21, 2014)
Last evaluated:
Mar 13, 2014
Accession:
VCV000143785.2
Variation ID:
143785
Description:
1bp deletion
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NM_001323289.2(CDKL5):c.183del (p.Met63fs)

Allele ID
153517
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
Xp22.13
Genomic location
X: 18575390 (GRCh38) GRCh38 UCSC
X: 18593510 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_003159.2:c.183delT frameshift
NC_000023.10:g.18593511del
NC_000023.11:g.18575391del
... more HGVS
Protein change
M63fs
Other names
-
Canonical SPDI
NC_000023.11:18575389:TT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
RettBASE (CDKL5): 1
RettBASE (CDKL5): 1C
ClinGen: CA170456
dbSNP: rs62643608
Varsome
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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 Mar 13, 2014 RCV000133332.3
Pathogenic 1 no assertion criteria provided Mar 13, 2014 RCV000170013.2
Pathogenic 1 no assertion criteria provided Mar 13, 2014 RCV000170012.2
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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
752 1250

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 13, 2014)
no assertion criteria provided
Method: curation
Epileptic encephalopathy, early infantile, 2
Allele origin: unknown
RettBASE
Accession: SCV000188341.2
Submitted: (Nov 21, 2014)
Evidence details
Comment:
Frameshift mutation in exon 5, leads to a truncated polypeptide with 74 amino acid residues
Pathogenic
(Mar 13, 2014)
no assertion criteria provided
Method: curation
Atypical Rett syndrome
Allele origin: unknown
RettBASE
Accession: SCV000222319.1
Submitted: (Nov 21, 2014)
Evidence details
Comment:
Frameshift mutation in exon 5, leads to a truncated polypeptide with 74 amino acid residues
Pathogenic
(Mar 13, 2014)
no assertion criteria provided
Method: curation
Autism
Allele origin: unknown
RettBASE
Accession: SCV000222320.1
Submitted: (Nov 21, 2014)
Evidence details
Comment:
Frameshift mutation in exon 5, leads to a truncated polypeptide with 74 amino acid residues

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

Text-mined citations for rs62643608...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021