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NM_000396.4(CTSK):c.905G>A (p.Trp302Ter) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
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:
RCV001007653.2

Allele description [Variation Report for NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)]

NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)

Gene:
CTSK:cathepsin K [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)
HGVS:
  • NC_000001.11:g.150796884C>T
  • NG_011848.1:g.16453G>A
  • NM_000396.4:c.905G>AMANE SELECT
  • NP_000387.1:p.Trp302Ter
  • NC_000001.10:g.150769360C>T
  • NC_000001.10:g.150769360C>T
  • NM_000396.3:c.905G>A
  • p.(Trp302*)
  • p.Trp302*
Protein change:
W302*
Links:
dbSNP: rs1571122183
NCBI 1000 Genomes Browser:
rs1571122183
Molecular consequence:
  • NM_000396.4:c.905G>A - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
Uncertain function
Observations:
1

Condition(s)

Name:
Skeletal dysplasia
Synonyms:
Primary bone dysplasia
Identifiers:
MONDO: MONDO:0018230; MedGen: C0410528; Human Phenotype Ontology: HP:0002652
Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Name:
Dental crowding
Identifiers:
MedGen: C0040433; Human Phenotype Ontology: HP:0000678
Name:
Abnormal skull morphology
Synonyms:
Abnormality of the skull
Identifiers:
MedGen: C0235942; Human Phenotype Ontology: HP:0000929
Name:
Abnormality of the fontanelles or cranial sutures
Identifiers:
MedGen: C4025876; Human Phenotype Ontology: HP:0000235
Name:
Macrocephaly
Synonyms:
Macrocephalus; large head
Identifiers:
MedGen: C2243051; Human Phenotype Ontology: HP:0000256
Name:
Periodontitis
Identifiers:
MONDO: MONDO:0005076; MedGen: C0031099; Human Phenotype Ontology: HP:0000704
Name:
Delayed closure of the anterior fontanelle
Identifiers:
MedGen: C3840083; Human Phenotype Ontology: HP:0001476
Name:
Nail dysplasia
Identifiers:
MedGen: C1834405; Human Phenotype Ontology: HP:0002164
Name:
Increased susceptibility to fractures
Synonyms:
Bone fragility
Identifiers:
MedGen: C1390474; Human Phenotype Ontology: HP:0002659
Name:
Thoracic scoliosis
Identifiers:
MedGen: C1857790; Human Phenotype Ontology: HP:0002943
Name:
Obtuse angle of mandible
Identifiers:
MedGen: C4038738; Human Phenotype Ontology: HP:0005446
Name:
Enamel hypoplasia
Synonyms:
Hypoplasia of dental enamel; Dental enamel hypoplasia
Identifiers:
MONDO: MONDO:0004038; MedGen: C0011351; Human Phenotype Ontology: HP:0006297
Name:
Short finger
Identifiers:
MedGen: C1844548; Human Phenotype Ontology: HP:0009381
Name:
Midface retrusion
Identifiers:
MedGen: C1853242; Human Phenotype Ontology: HP:0011800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992362Human Genetics Department, Tarbiat Modares University
no assertion criteria provided
Uncertain significanceinheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Human Genetics Department, Tarbiat Modares University, SCV000992362.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024