NM_001267550.2(TTN):c.41703T>C (p.Thr13901=) 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:
- RCV001128764.4
Allele description [Variation Report for NM_001267550.2(TTN):c.41703T>C (p.Thr13901=)]
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=)
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
-
PREDICTED: Cucumis melo transcription factor bHLH70 (LOC103483091), transcript v...
PREDICTED: Cucumis melo transcription factor bHLH70 (LOC103483091), transcript variant X1, mRNAgi|2316560209|ref|XM_008439526.3|Nucleotide
-
Inocybe umbrina (1)
Taxonomy
-
JGI_CABH8664.fwd NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7851872...
JGI_CABH8664.fwd NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7851872 5', mRNA sequencegi|73777420|gnl|dbEST|31032635|gb|D 23.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 20, 2024