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NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del) AND Multiple epiphyseal dysplasia

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:
RCV002210947.2

Allele description [Variation Report for NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del)]

NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del)

Gene:
COMP:cartilage oligomeric matrix protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.11
Genomic location:
Preferred name:
NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del)
HGVS:
  • NC_000019.10:g.18787525_18787530del
  • NG_007070.1:g.8779_8784del
  • NM_000095.3:c.1099_1104delMANE SELECT
  • NP_000086.2:p.Arg367_Gly368del
  • NC_000019.9:g.18898334_18898339del
  • NM_000095.2:c.1099_1104del
Links:
dbSNP: rs2145902176
NCBI 1000 Genomes Browser:
rs2145902176
Molecular consequence:
  • NM_000095.3:c.1099_1104del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Multiple epiphyseal dysplasia
Synonyms:
Multiple epiphyseal dysplasia (disease)
Identifiers:
MONDO: MONDO:0016648; MedGen: C0026760; OMIM: PS132400; Human Phenotype Ontology: HP:0002654

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002496183GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV002496183.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023