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
-
Taxonomy Links for GEO Profiles (Select 6904931) (1)
Taxonomy
-
Gene Links for GEO Profiles (Select 62379080) (1)
Gene
-
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 [Homo sapiens]
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 [Homo sapiens]Gene ID:3178Gene
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Last Updated: May 19, 2024