NM_021942.6(TRAPPC11):c.1193G>A (p.Arg398Gln) AND Autosomal recessive limb-girdle muscular dystrophy type R18
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000822559.6
Allele description [Variation Report for NM_021942.6(TRAPPC11):c.1193G>A (p.Arg398Gln)]
NM_021942.6(TRAPPC11):c.1193G>A (p.Arg398Gln)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type R18 (LGMDR18)
- Synonyms:
- Limb-girdle muscular dystrophy, type 2S; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18; Autosomal recessive limb-girdle muscular dystrophy type 2S
- Identifiers:
- MONDO: MONDO:0014144; MedGen: C4517996; Orphanet: 369840; OMIM: 615356
Assertion and evidence details
Last Updated: Feb 20, 2024