NM_133642.5(LARGE1):c.987T>C (p.Ser329=) AND Muscular dystrophy-dystroglycanopathy type B6
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002694832.2
Allele description [Variation Report for NM_133642.5(LARGE1):c.987T>C (p.Ser329=)]
NM_133642.5(LARGE1):c.987T>C (p.Ser329=)
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
-
CD44-like protein
CD44-like proteingi|82120056|sp|Q9W6S4|Q9W6S4_CHICKProtein
-
Cpgi1742 AND (alive[prop]) (0)
Gene
-
Scamp1 AND (alive[prop]) (795)
Gene
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Last Updated: Mar 5, 2024