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NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 9, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000624117.3

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)]

NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)
Other names:
NM_001323289.2(CDKL5):c.1247_1248del; p.Glu416fs
HGVS:
  • NC_000023.11:g.18604169AG[1]
  • NG_008475.1:g.183565AG[1]
  • NM_001037343.2:c.1247_1248del
  • NM_001323289.2:c.1247_1248delMANE SELECT
  • NM_003159.3:c.1247_1248del
  • NP_001032420.1:p.Glu416fs
  • NP_001310218.1:p.Glu416fs
  • NP_003150.1:p.Glu416fs
  • NC_000023.10:g.18622289AG[1]
  • NC_000023.10:g.18622289_18622290del
  • NC_000023.11:g.18604171_18604172delAG
  • NM_003159.2(CDKL5):c.1247_1248delAG
  • NM_003159.2:c.1247_1248delAG
  • p.Glu416Valfs
Protein change:
E416fs
Links:
dbSNP: rs786204967
NCBI 1000 Genomes Browser:
rs786204967
Molecular consequence:
  • NM_001037343.2:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323289.2:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003159.3:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000740941Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Jun 9, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Albaniangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000740941.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Albanian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024