NM_005476.7(GNE):c.1933+7A>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 4, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001504598.7
Allele description [Variation Report for NM_005476.7(GNE):c.1933+7A>T]
NM_005476.7(GNE):c.1933+7A>T
Condition(s)
- Name:
- GNE myopathy (NM)
- Synonyms:
- Nonaka myopathy; Nonaka distal myopathy; INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011603; MedGen: C1853926; Orphanet: 602; OMIM: 605820
-
Mus musculus glypican 5 (Gpc5), mRNA
Mus musculus glypican 5 (Gpc5), mRNAgi|31342031|ref|NM_175500.2|Nucleotide
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Last Updated: Sep 29, 2024