NM_080680.3(COL11A2):c.*4C>T AND Otospondylomegaepiphyseal dysplasia, autosomal dominant
- Germline classification:
- Likely benign (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:
- RCV000382279.5
Allele description [Variation Report for NM_080680.3(COL11A2):c.*4C>T]
NM_080680.3(COL11A2):c.*4C>T
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
-
Homo sapiens fibromodulin (FMOD), transcript variant 1, mRNA
Homo sapiens fibromodulin (FMOD), transcript variant 1, mRNAgi|518834018|ref|NM_002023.4|Nucleotide
-
serologically defined colon cancer antigen 33 [Homo sapiens]
serologically defined colon cancer antigen 33 [Homo sapiens]gi|15451923|ref|NP_005777.2|Protein
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See more...Assertion and evidence details
Last Updated: Apr 20, 2024