NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) AND Sarcotubular myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000392425.5
Allele description [Variation Report for NM_012210.4(TRIM32):c.480G>A (p.Met160Ile)]
NM_012210.4(TRIM32):c.480G>A (p.Met160Ile)
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
-
Arabidopsis thaliana Stabilizer of iron transporter SufD / Polynucleotidyl trans...
Arabidopsis thaliana Stabilizer of iron transporter SufD / Polynucleotidyl transferase (AGO1), mRNAgi|1063688753|ref|NM_103737.4|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024