NM_000316.3(PTH1R):c.1050-3dup AND Metaphyseal chondrodysplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000276202.5
Allele description [Variation Report for NM_000316.3(PTH1R):c.1050-3dup]
NM_000316.3(PTH1R):c.1050-3dup
Condition(s)
- Name:
- Metaphyseal chondrodysplasia
- Synonyms:
- Metaphyseal chondrodysplasia (disease)
- Identifiers:
- MONDO: MONDO:0000138; MedGen: C0265290; Human Phenotype Ontology: HP:0005871
-
CopG-like transcriptional repressor [Sulfolobus spindle-shaped virus 7]
CopG-like transcriptional repressor [Sulfolobus spindle-shaped virus 7]gi|270281837|ref|YP_003331503.1|Protein
-
Taxonomy Links for Protein (Select 2070668558) (1)
Taxonomy
-
txid351659[Organism:noexp] (13)
PMC
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Anopheles funestus CYP6P9b gene, promoter region.
Anopheles funestus CYP6P9b gene, promoter region.PopSet: 1821495051PopSet
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txid62324[orgn] AND "isolate FNG120-2"[All Fields] (1)
PopSet
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See more...Assertion and evidence details
Last Updated: Mar 16, 2024