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NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter) AND Developmental and epileptic encephalopathy, 2

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:
RCV000133313.3

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter)]

NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter)

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.1039C>T (p.Gln347Ter)
Other names:
NM_001323289.2(CDKL5):c.1039C>T; p.Gln347Ter
HGVS:
  • NC_000023.11:g.18603963C>T
  • NG_008475.1:g.183359C>T
  • NM_001037343.2:c.1039C>T
  • NM_001323289.2:c.1039C>TMANE SELECT
  • NM_003159.3:c.1039C>T
  • NP_001032420.1:p.Gln347Ter
  • NP_001310218.1:p.Gln347Ter
  • NP_003150.1:p.Gln347Ter
  • NP_003150.1:p.Gln347Ter
  • NC_000023.10:g.18622083C>T
  • NM_003159.2:c.1039C>T
Protein change:
Q347*
Links:
RettBASE (CDKL5): 134; dbSNP: rs267608561
NCBI 1000 Genomes Browser:
rs267608561
Molecular consequence:
  • NM_001037343.2:c.1039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323289.2:c.1039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003159.3:c.1039C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 2 (DEE2)
Synonyms:
INFANTILE SPASM SYNDROME, X-LINKED 2; Early infantile epileptic encephalopathy 2
Identifiers:
MONDO: MONDO:0010396; MedGen: C4750718; Orphanet: 1934; Orphanet: 3451; OMIM: 300672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188322RettBASE
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

CDKL5 alterations lead to early epileptic encephalopathy in both genders.

Liang JS, Shimojima K, Takayama R, Natsume J, Shichiji M, Hirasawa K, Imai K, Okanishi T, Mizuno S, Okumura A, Sugawara M, Ito T, Ikeda H, Takahashi Y, Oguni H, Imai K, Osawa M, Yamamoto T.

Epilepsia. 2011 Oct;52(10):1835-42. doi: 10.1111/j.1528-1167.2011.03174.x. Epub 2011 Jul 19.

PubMed [citation]
PMID:
21770923

Details of each submission

From RettBASE, SCV000188322.2

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

Description

"Not Rett syndrome - epileptic encephalopathy"

PubMed [ID: 21770923]

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

Last Updated: Oct 8, 2024