NM_001077365.2(POMT1):c.1414G>A (p.Val472Ile) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001929572.4
Allele description [Variation Report for NM_001077365.2(POMT1):c.1414G>A (p.Val472Ile)]
NM_001077365.2(POMT1):c.1414G>A (p.Val472Ile)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2K
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
- Identifiers:
- MONDO: MONDO:0012248; MedGen: C1836373; Orphanet: 86812; OMIM: 609308
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 (MDDGB1)
- Synonyms:
- MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
- Identifiers:
- MONDO: MONDO:0013159; MedGen: C5436962; OMIM: 613155
Assertion and evidence details
Last Updated: May 7, 2024