NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) AND Tibial muscular dystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000406708.13
Allele description [Variation Report for NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)]
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)
Condition(s)
- Name:
- Tibial muscular dystrophy (TMD)
- 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: Oct 8, 2024