NC_000008.10:g.(?_117647788)_(120797526_?)dup AND Multiple congenital exostosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003119346.3
Allele description
NC_000008.10:g.(?_117647788)_(120797526_?)dup
Condition(s)
- Name:
- Multiple congenital exostosis (EXT)
- Synonyms:
- MULTIPLE CARTILAGINOUS EXOSTOSES; Hereditary multiple osteochondromas; Multiple exostoses; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0005508; MedGen: C0015306; Orphanet: 321; OMIM: PS133700; Human Phenotype Ontology: HP:0002762
-
PREDICTED: Homo sapiens DAP3 binding cell death enhancer 1 (DELE1), transcript v...
PREDICTED: Homo sapiens DAP3 binding cell death enhancer 1 (DELE1), transcript variant X3, misc_RNAgi|1370506887|ref|XR_427783.3|Nucleotide
-
Homo sapiens muscleblind like splicing regulator 1 (MBNL1), transcript variant 2...
Homo sapiens muscleblind like splicing regulator 1 (MBNL1), transcript variant 28, mRNAgi|1777376026|ref|NM_001376836.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 30, 2024