NM_001128227.3(GNE):c.-10G>A AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 18, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000555132.2
Allele description
NM_001128227.3(GNE):c.-10G>A
Condition(s)
- Name:
- GNE myopathy (NM)
- Synonyms:
- Nonaka myopathy; INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE; INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
- Identifiers:
- MedGen: C1853926; Orphanet: 602; OMIM: 605820
Assertion and evidence details
Last Updated: Nov 2, 2019