NM_005476.7(GNE):c.1267A>G (p.Ile423Val) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000533442.8
Allele description [Variation Report for NM_005476.7(GNE):c.1267A>G (p.Ile423Val)]
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
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
Assertion and evidence details
Last Updated: Mar 16, 2024