NM_012210.4(TRIM32):c.*1207A>G AND Sarcotubular myopathy
- Germline classification:
- Uncertain significance (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:
- RCV000361353.5
Allele description [Variation Report for NM_012210.4(TRIM32):c.*1207A>G]
NM_012210.4(TRIM32):c.*1207A>G
Condition(s)
- Name:
- Sarcotubular myopathy (LGMDR8)
- Synonyms:
- Muscular dystrophy Hutterite type; Hutterite type of muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009683; MedGen: C0270968; Orphanet: 1878; OMIM: 254110
-
txid592623[Organism:noexp] (1)
BioSample
-
Targeted sequencing of Martiodendron mediterraneum
Targeted sequencing of Martiodendron mediterraneumbiosample
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023