NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) AND Tibial muscular dystrophy
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Sep 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000366520.15
Allele description [Variation Report for NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)]
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)
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
-
mitofusin-2 [Mus musculus]
mitofusin-2 [Mus musculus]gi|553726993|ref|NP_001272850.1|Protein
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Last Updated: Oct 13, 2024