U.S. flag

An official website of the United States government

NM_001323289.2(CDKL5):c.1854del (p.Asp618fs) AND Atypical Rett syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 13, 2014
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:
RCV000170014.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1854del (p.Asp618fs)]

NM_001323289.2(CDKL5):c.1854del (p.Asp618fs)

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_001323289.2(CDKL5):c.1854del (p.Asp618fs)
Other names:
NM_001323289.2(CDKL5):c.1854del; p.Asp618fs
HGVS:
  • NC_000023.11:g.18604778del
  • NG_008475.1:g.184174del
  • NM_001037343.2:c.1854del
  • NM_001323289.2:c.1854delMANE SELECT
  • NM_003159.3:c.1854del
  • NP_001032420.1:p.Asp618fs
  • NP_001310218.1:p.Asp618fs
  • NP_003150.1:p.Asp618fs
  • NC_000023.10:g.18622898del
  • NM_003159.2:c.1854delC
Protein change:
D618fs
Links:
RettBASE (CDKL5): 156; dbSNP: rs786204975
NCBI 1000 Genomes Browser:
rs786204975
Molecular consequence:
  • NM_001037343.2:c.1854del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323289.2:c.1854del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003159.3:c.1854del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000222321RettBASE
no assertion criteria provided
Pathogenic
(Mar 13, 2014) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedcuration

Citations

PubMed

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.

Pini G, Bigoni S, Engerström IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, et al.

Neuropediatrics. 2012 Feb;43(1):37-43. doi: 10.1055/s-0032-1308856. Epub 2012 Mar 19. Erratum in: Neuropediatrics. 2013 Aug;44(4):237.

PubMed [citation]
PMID:
22430159

Details of each submission

From RettBASE, SCV000222321.1

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

Description

"Rett syndrome - Hanefeld"

PubMed [ID: 22430159]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024