NM_001287.6(CLCN7):c.739-18G>A AND Autosomal dominant osteopetrosis 2
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001330544.2
Allele description [Variation Report for NM_001287.6(CLCN7):c.739-18G>A]
NM_001287.6(CLCN7):c.739-18G>A
Condition(s)
- Name:
- Autosomal dominant osteopetrosis 2
- Synonyms:
- ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT; MARBLE BONES, AUTOSOMAL DOMINANT; OSTEOSCLEROSIS FRAGILIS GENERALISATA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008156; MedGen: C3179239; Orphanet: 53; OMIM: 166600
Assertion and evidence details
Last Updated: Aug 4, 2024