NM_005476.7(GNE):c.1282G>A (p.Gly428Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001982736.6
Allele description [Variation Report for NM_005476.7(GNE):c.1282G>A (p.Gly428Ser)]
NM_005476.7(GNE):c.1282G>A (p.Gly428Ser)
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
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Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 4, mRNA
Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 4, mRNAgi|1890335537|ref|NM_001242799.2|Nucleotide
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RPM1-interacting protein 4 (RIN4) family protein [Arabidopsis thaliana]
RPM1-interacting protein 4 (RIN4) family protein [Arabidopsis thaliana]gi|18422009|ref|NP_568584.1|Protein
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EXT2 [Molossus molossus]
EXT2 [Molossus molossus]Gene ID:118627865Gene
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PREDICTED: Homo sapiens MRE11 homolog, double strand break repair nuclease (MRE1...
PREDICTED: Homo sapiens MRE11 homolog, double strand break repair nuclease (MRE11), transcript variant X2, misc_RNAgi|1034573784|ref|XR_947828.2|Nucleotide
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Trypanosoma conorhini uncharacterized protein (Tco025E_09488), partial mRNA
Trypanosoma conorhini uncharacterized protein (Tco025E_09488), partial mRNAgi|1673149232|ref|XM_029376305.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024