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NM_001323289.2(CDKL5):c.1243dup (p.Thr415fs) AND Developmental delay

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003154290.2

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1243dup (p.Thr415fs)]

NM_001323289.2(CDKL5):c.1243dup (p.Thr415fs)

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_001323289.2(CDKL5):c.1243dup (p.Thr415fs)
HGVS:
  • NC_000023.11:g.18604167dup
  • NG_008475.1:g.183563dup
  • NM_001037343.2:c.1243dup
  • NM_001323289.2:c.1243dupMANE SELECT
  • NM_003159.3:c.1243dup
  • NP_001032420.1:p.Thr415fs
  • NP_001310218.1:p.Thr415fs
  • NP_003150.1:p.Thr415fs
  • NC_000023.10:g.18622287dup
Protein change:
T415fs
Molecular consequence:
  • NM_001037343.2:c.1243dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323289.2:c.1243dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003159.3:c.1243dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Developmental delay
Identifiers:
MedGen: C0424605

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003803004Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
no assertion criteria provided
Likely pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The diagnostic yield of CGH and WES in neurodevelopmental disorders.

Alotibi RS, Sannan NS, AlEissa M, Aldriwesh MG, Al Tuwaijri A, Akiel MA, Almutairi M, Alsamer A, Altharawi N, Aljawfan G, Alotiabi B, AlBlawi MA, Alfares A.

Front Pediatr. 2023;11:1133789. doi: 10.3389/fped.2023.1133789.

PubMed [citation]
PMID:
36937954
PMCID:
PMC10014736

Details of each submission

From Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), SCV003803004.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 3, 2023