NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2M
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Mar 21, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000003357.15
Allele description [Variation Report for NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)]
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2M
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
- Identifiers:
- MONDO: MONDO:0012699; MedGen: C1969040; Orphanet: 206554; OMIM: 611588
Assertion and evidence details
Last Updated: Oct 8, 2024