NM_002427.4(MMP13):c.997C>T (p.Arg333Cys) AND Metaphyseal anadysplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000298241.5
Allele description [Variation Report for NM_002427.4(MMP13):c.997C>T (p.Arg333Cys)]
NM_002427.4(MMP13):c.997C>T (p.Arg333Cys)
Condition(s)
- Name:
- Metaphyseal anadysplasia
- Synonyms:
- Early-onset regressive form of metaphyseal dysplasia
- Identifiers:
- MONDO: MONDO:0015177; MedGen: C0432226
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PTPRD protein tyrosine phosphatase receptor type D [Homo sapiens]
PTPRD protein tyrosine phosphatase receptor type D [Homo sapiens]Gene ID:5789Gene
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Gene Links for GEO Profiles (Select 103224964) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Jul 29, 2023