NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=) 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:
- RCV000315276.5
Allele description [Variation Report for NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=)]
NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=)
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
-
Chain O, DNA (30-MER)
Chain O, DNA (30-MER)gi|929984780|pdb|4XLS|ONucleotide
-
unnamed protein product, partial [Mus musculus]
unnamed protein product, partial [Mus musculus]gi|26350409|dbj|BAC38844.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024