NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) AND Atypical Rett syndrome

Clinical significance:Pathogenic (Last evaluated: Mar 13, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169916.2

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)]

NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)
Other names:
p.R550*:CGA>TGA
HGVS:
  • NC_000023.11:g.18604572C>T
  • NG_008475.1:g.183968C>T
  • NM_001037343.2:c.1648C>T
  • NM_001323289.2:c.1648C>TMANE SELECT
  • NM_003159.3:c.1648C>T
  • NP_001032420.1:p.Arg550Ter
  • NP_001032420.1:p.Arg550Ter
  • NP_001310218.1:p.Arg550Ter
  • NP_003150.1:p.Arg550Ter
  • NP_003150.1:p.Arg550Ter
  • NC_000023.10:g.18622692C>T
  • NM_001037343.1:c.1648C>T
  • NM_003159.2:c.1648C>T
Protein change:
R550*
Links:
RettBASE (CDKL5): 47; dbSNP: rs267608643
NCBI 1000 Genomes Browser:
rs267608643
Molecular consequence:
  • NM_001037343.2:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323289.2:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003159.3:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Atypical Rett syndrome
Synonyms:
Rett like syndrome
Identifiers:
MONDO: MONDO:0017746; MedGen: C2748910

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188336RettBASEno assertion criteria providedPathogenic
(Mar 13, 2014)
de novocuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedcuration

Citations

PubMed

Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.

Pintaudi M, Baglietto MG, Gaggero R, Parodi E, Pessagno A, Marchi M, Russo S, Veneselli E.

Epilepsy Behav. 2008 Feb;12(2):326-31. Epub 2007 Dec 11. Review.

PubMed [citation]
PMID:
18063413

Details of each submission

From RettBASE, SCV000188336.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)

Description

"Rett syndrome - early-onset seizure"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021

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