NM_013382.7(POMT2):c.*1058G>A AND Autosomal recessive limb-girdle muscular dystrophy type 2N
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000261235.5
Allele description [Variation Report for NM_013382.7(POMT2):c.*1058G>A]
NM_013382.7(POMT2):c.*1058G>A
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2N
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
- Identifiers:
- MONDO: MONDO:0013162; MedGen: C3150418; Orphanet: 206559; OMIM: 613158
Assertion and evidence details
Last Updated: Dec 24, 2023