NM_001323289.2(CDKL5):c.978-23T>C AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
May 9, 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:
RCV000169972.2

Allele description [Variation Report for NM_001323289.2(CDKL5):c.978-23T>C]

NM_001323289.2(CDKL5):c.978-23T>C

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.978-23T>C
HGVS:
  • NC_000023.11:g.18603879T>C
  • NG_008475.1:g.183275T>C
  • NM_001037343.2:c.978-23T>C
  • NM_001323289.2:c.978-23T>CMANE SELECT
  • NM_003159.3:c.978-23T>C
  • NC_000023.10:g.18621999T>C
  • NM_003159.2:c.978-23T>C
Links:
RettBASE (CDKL5): 98; dbSNP: rs267608555
NCBI 1000 Genomes Browser:
rs267608555
Molecular consequence:
  • NM_001037343.2:c.978-23T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001323289.2:c.978-23T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003159.3:c.978-23T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000222275RettBASE
no assertion criteria provided
Benign
(May 9, 2014) 		maternal, unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalnot provided1not providednot provided1not providedcuration
not providedunknownnot provided1not providednot provided1not providedcuration

Citations

PubMed

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J.

Twin Res Hum Genet. 2010 Apr;13(2):168-78. doi: 10.1375/twin.13.2.168.

PubMed [citation]
PMID:
20397747

Details of each submission

From RettBASE, SCV000222275.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)
2not provided1not providednot providedcuration PubMed (1)

Description

"Not Rett syndrome - neonatal seizures, severe epilepsy and mental retardation"

PubMed [ID: 20397747]

"Unaffected - unaffected family member"

PubMed [ID: 20397747]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalnot provided1not providednot provided1not providednot providednot provided
2unknownnot provided1not providednot provided1not providednot providednot provided

Last Updated: Dec 9, 2023