NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) AND Tibial muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000406062.1
Allele description
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val)
Condition(s)
- Name:
- Tibial muscular dystrophy
- Synonyms:
- Distal myopathy Markesbery-Griggs type; UDD Myopathy; Tibial muscular dystrophy, tardive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010870; MedGen: C1838244; Orphanet: 609; OMIM: 600334
Assertion and evidence details
Last Updated: May 12, 2020