NM_080680.3(COL11A2):c.830C>A (p.Pro277His) AND Otospondylomegaepiphyseal dysplasia, autosomal dominant
- 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:
- RCV000311772.5
Allele description [Variation Report for NM_080680.3(COL11A2):c.830C>A (p.Pro277His)]
NM_080680.3(COL11A2):c.830C>A (p.Pro277His)
Condition(s)
- Name:
- Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA)
- Synonyms:
- Stickler syndrome, type 3; Stickler syndrome nonocular type; Weissenbacher-Zweymuller syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008490; MedGen: C1848488; Orphanet: 3450; OMIM: 184840
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See more...Assertion and evidence details
Last Updated: Oct 14, 2023