NM_001395891.1(CLASP1):c.196-570C>T AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002494514.2
Allele description [Variation Report for NM_001395891.1(CLASP1):c.196-570C>T]
NM_001395891.1(CLASP1):c.196-570C>T
Condition(s)
- Name:
- Osteodysplastic primordial dwarfism, type 1 (MOPD1)
- Synonyms:
- MOPD I; Microcephalic osteodysplastic primordial dwarfism type 1; Osteodysplastic primordial dwarfism type I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008871; MedGen: C1859452; Orphanet: 2636; OMIM: 210710
Assertion and evidence details
Last Updated: Jun 17, 2024