NM_012210.4(TRIM32):c.276C>T (p.Ser92=) 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:
- RCV001166606.5
Allele description [Variation Report for NM_012210.4(TRIM32):c.276C>T (p.Ser92=)]
NM_012210.4(TRIM32):c.276C>T (p.Ser92=)
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
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Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-is...
Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNAgi|1519315884|ref|NM_000198.4|Nucleotide
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sciellin isoform 2 [Homo sapiens]
sciellin isoform 2 [Homo sapiens]gi|238908497|ref|NP_003834.3|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024