NM_001287.6(CLCN7):c.801G>A (p.Thr267=) AND Increased bone mineral density
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002278424.3
Allele description [Variation Report for NM_001287.6(CLCN7):c.801G>A (p.Thr267=)]
NM_001287.6(CLCN7):c.801G>A (p.Thr267=)
Condition(s)
- Name:
- Increased bone mineral density
- Synonyms:
- Osteosclerosis
- Identifiers:
- MONDO: MONDO:0002933; MeSH: D010026; MedGen: C0029464; Human Phenotype Ontology: HP:0011001
Assertion and evidence details
Last Updated: Mar 23, 2024