NM_133642.5(LARGE1):c.1462C>T (p.Leu488=) AND Muscular dystrophy-dystroglycanopathy type B6
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002182077.6
Allele description [Variation Report for NM_133642.5(LARGE1):c.1462C>T (p.Leu488=)]
NM_133642.5(LARGE1):c.1462C>T (p.Leu488=)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy type B6 (MDDGB6)
- Synonyms:
- MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED; MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6
- Identifiers:
- MONDO: MONDO:0012138; MedGen: C1837229; OMIM: 608840
Assertion and evidence details
Last Updated: Sep 29, 2024