NM_024301.5(FKRP):c.796del (p.Ala266fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2I
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 15, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000672793.1
Allele description [Variation Report for NM_024301.5(FKRP):c.796del (p.Ala266fs)]
NM_024301.5(FKRP):c.796del (p.Ala266fs)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2I
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011787; MedGen: C1846672; Orphanet: 34515; OMIM: 607155
Assertion and evidence details
Last Updated: Mar 30, 2024