NM_005476.7(GNE):c.1634-4G>T AND GNE myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 17, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001273950.8
Allele description [Variation Report for NM_005476.7(GNE):c.1634-4G>T]
NM_005476.7(GNE):c.1634-4G>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
-
SRP117214 (8)
SRA
-
hypothetical protein ATCV1_Z814L [Chlorovirus heliozoae]
hypothetical protein ATCV1_Z814L [Chlorovirus heliozoae]gi|155125081|gb|ABT16948.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024