NM_005476.7(GNE):c.1933+11G>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003783550.1
Allele description [Variation Report for NM_005476.7(GNE):c.1933+11G>C]
NM_005476.7(GNE):c.1933+11G>C
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
-
Homo sapiens vasoactive intestinal peptide (VIP), mRNA
Homo sapiens vasoactive intestinal peptide (VIP), mRNAgi|4507896|ref|NM_003381.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024