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NM_003159.2(CDKL5):c.65dupG AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000133382.10

Allele description [Variation Report for NM_003159.2(CDKL5):c.65dupG]

NM_003159.2(CDKL5):c.65dupG

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_003159.2(CDKL5):c.65dupG
HGVS:
  • NC_000023.11:g.18510820dup
  • NG_008475.1:g.90216dup
  • NC_000023.10:g.18528940dup
  • NM_003159.2:c.65dupG
Links:
dbSNP: rs267608420
NCBI 1000 Genomes Browser:
rs267608420

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188397RettBASE
no classification provided
not providednot providednot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From RettBASE, SCV000188397.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024