NM_000232.4(SGCB):c.551_552del (p.Asp183_Tyr184insTer) AND Autosomal recessive limb-girdle muscular dystrophy type 2E
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 19, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000410084.1
Allele description
NM_000232.4(SGCB):c.551_552del (p.Asp183_Tyr184insTer)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2E (LGMD2E)
- Synonyms:
- Limb-girdle muscular dystrophy, type 2E; Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency; Beta-sarcoglycan limb-girdle muscular dystrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011423; MedGen: C1858593; Orphanet: 119; OMIM: 604286
Assertion and evidence details
Last Updated: Apr 13, 2021