NM_002427.4(MMP13):c.138C>T (p.Tyr46=) AND Metaphyseal anadysplasia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000394257.5
Allele description [Variation Report for NM_002427.4(MMP13):c.138C>T (p.Tyr46=)]
NM_002427.4(MMP13):c.138C>T (p.Tyr46=)
Condition(s)
- Name:
- Metaphyseal anadysplasia
- Synonyms:
- Early-onset regressive form of metaphyseal dysplasia
- Identifiers:
- MONDO: MONDO:0015177; MedGen: C0432226
Assertion and evidence details
Last Updated: Feb 28, 2024