NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile) AND multiple conditions
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000660512.5
Allele description [Variation Report for NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile)]
NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile)
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
Assertion and evidence details
Last Updated: Oct 13, 2024