NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) 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:
- RCV000385744.15
Allele description [Variation Report for NM_001267550.2(TTN):c.15717G>A (p.Thr5239=)]
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=)
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
-
hypothetical protein CDV31_008251 [Fusarium ambrosium]
hypothetical protein CDV31_008251 [Fusarium ambrosium]gi|1536008471|gb|RSM08243.1||gnl|WG V|CDV31_008251-T1Protein
-
ALG1 [Pan paniscus]
ALG1 [Pan paniscus]Gene ID:100982195Gene
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Last Updated: Oct 13, 2024