NM_000396.3(CTSK):c.48delG (p.Tyr17Thrfs) AND Pyknodysostosis

Clinical significance:Likely pathogenic (Last evaluated: Apr 19, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412289.1

Allele description

NM_000396.3(CTSK):c.48delG (p.Tyr17Thrfs)

Gene:
CTSK:cathepsin K [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_000396.3(CTSK):c.48delG (p.Tyr17Thrfs)
HGVS:
  • NC_000001.11:g.150806758delC
  • NG_011848.1:g.6579delG
  • NM_000396.3:c.48delG
  • NP_000387.1:p.Tyr17Thrfs
  • NC_000001.10:g.150779234delC
Links:
dbSNP: rs1057516790
NCBI 1000 Genomes Browser:
rs1057516790
Molecular consequence:
  • NM_000396.3:c.48delG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Pyknodysostosis
Synonyms:
Pycnodysostosis
Identifiers:
MedGen: C0238402; Orphanet: 763; OMIM: 265800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486226Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 19, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000486226.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 6, 2018

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