NM_001267550.2(TTN):c.33834G>A (p.Glu11278=) AND Tibial muscular dystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000325495.13
Allele description [Variation Report for NM_001267550.2(TTN):c.33834G>A (p.Glu11278=)]
NM_001267550.2(TTN):c.33834G>A (p.Glu11278=)
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 ribosomal protein S15a (RPS15A), transcript variant 2, mRNA
Homo sapiens ribosomal protein S15a (RPS15A), transcript variant 2, mRNAgi|1519243150|ref|NM_001019.5|Nucleotide
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PMC Links for GEO DataSets (Select 1332) (1)
PMC
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Same Parent, Connectivity for PubChem Compound (Select 166159933) (1)
PubChem Compound
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Gene neighbors for Gene (Select 400952) (11)
Gene
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Mus musculus phosphodiesterase 2A, cGMP-stimulated, mRNA (cDNA clone IMAGE:35984...
Mus musculus phosphodiesterase 2A, cGMP-stimulated, mRNA (cDNA clone IMAGE:3598413), partial cdsgi|13905115|gb|BC006845.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 7, 2024