NM_001267550.2(TTN):c.42891C>T (p.Gly14297=) 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:
- RCV000285996.5
Allele description [Variation Report for NM_001267550.2(TTN):c.42891C>T (p.Gly14297=)]
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=)
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 ELPH10_108 [Mycobacterium phage Elph10]
hypothetical protein ELPH10_108 [Mycobacterium phage Elph10]gi|342315519|gb|AEL21848.1|Protein
-
hypothetical protein IPP41_00003 [Streptococcus phage IPP41]
hypothetical protein IPP41_00003 [Streptococcus phage IPP41]gi|1103790318|gb|APD23273.1|Protein
-
CM3-HT0144-220999-015-g04 HT0144 Homo sapiens cDNA, mRNA sequence
CM3-HT0144-220999-015-g04 HT0144 Homo sapiens cDNA, mRNA sequencegi|6871161|gnl|dbEST|3760494|gb|AW3 .1|Nucleotide
-
KIT [Macaca fascicularis]
KIT [Macaca fascicularis]Gene ID:102137242Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jul 29, 2024