NM_001267550.2(TTN):c.*913C>A AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002480180.1
Allele description [Variation Report for NM_001267550.2(TTN):c.*913C>A]
NM_001267550.2(TTN):c.*913C>A
Condition(s)
- Name:
- Dilated cardiomyopathy 1G (CMD1G)
- Identifiers:
- MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMDR10)
- Synonyms:
- Limb-girdle muscular dystrophy, type 2J; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
- Identifiers:
- MONDO: MONDO:0012127; MedGen: C1837342; Orphanet: 140922; OMIM: 608807
- 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
- Name:
- Myopathy, myofibrillar, 9, with early respiratory failure (MFM9)
- Synonyms:
- EDSTROM MYOPATHY; MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; Hereditary myopathy with early respiratory failure; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011362; MedGen: C1863599; Orphanet: 178464; Orphanet: 34521; OMIM: 603689
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MAG: plasmid stabilization protein, partial [Flavobacteriaceae bacterium CG_4_9_...
MAG: plasmid stabilization protein, partial [Flavobacteriaceae bacterium CG_4_9_14_0_8_um_filter_34_30]gi|1278708084|gb|PJC08426.1||gnl|WG T|CO068_01050Protein
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BB371643 RIKEN full-length enriched, 16 days embryo head Mus musculus cDNA clone...
BB371643 RIKEN full-length enriched, 16 days embryo head Mus musculus cDNA clone C130060L08 3', mRNA sequencegi|16406993|gnl|dbEST|10002925|dbj| 643.2|Nucleotide
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UI-M-BH2.3-anz-a-08-0-UI.s1 NIH_BMAP_M_S3.3 Mus musculus cDNA clone UI-M-BH2.3-a...
UI-M-BH2.3-anz-a-08-0-UI.s1 NIH_BMAP_M_S3.3 Mus musculus cDNA clone UI-M-BH2.3-anz-a-08-0-UI 3', mRNA sequencegi|6095963|gnl|dbEST|3265932|gb|AW1 .1|Nucleotide
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Last Updated: Jul 29, 2024