NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) 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:
- RCV000404062.13
Allele description [Variation Report for NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)]
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)
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
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Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant...
Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNAgi|23111020|ref|NM_152869.1|Nucleotide
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Homo sapiens regucalcin (senescence marker protein-30), mRNA (cDNA clone MGC:877...
Homo sapiens regucalcin (senescence marker protein-30), mRNA (cDNA clone MGC:87766 IMAGE:6186669), complete cdsgi|49118182|gb|BC073173.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024