NM_001128227.3(GNE):c.69C>T (p.Asn23=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000872705.11
Allele description [Variation Report for NM_001128227.3(GNE):c.69C>T (p.Asn23=)]
NM_001128227.3(GNE):c.69C>T (p.Asn23=)
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
-
AGENCOURT_15189833 NICHD_XGC_Sp1 Xenopus laevis cDNA clone IMAGE:5512266 5', mRN...
AGENCOURT_15189833 NICHD_XGC_Sp1 Xenopus laevis cDNA clone IMAGE:5512266 5', mRNA sequencegi|33626733|gnl|dbEST|19530066|gb|C 21.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024