NM_012210.4(TRIM32):c.257T>C (p.Ile86Thr) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002483329.8
Allele description [Variation Report for NM_012210.4(TRIM32):c.257T>C (p.Ile86Thr)]
NM_012210.4(TRIM32):c.257T>C (p.Ile86Thr)
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
-
PREDICTED: eukaryotic translation initiation factor 5A-2 [Ceratotherium simum si...
PREDICTED: eukaryotic translation initiation factor 5A-2 [Ceratotherium simum simum]gi|478500977|ref|XP_004424803.1|Protein
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Last Updated: Oct 20, 2024