NM_005660.3(SLC35A2):c.56C>T (p.Ser19Phe) AND SLC35A2-congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003095988.2
Allele description [Variation Report for NM_005660.3(SLC35A2):c.56C>T (p.Ser19Phe)]
NM_005660.3(SLC35A2):c.56C>T (p.Ser19Phe)
Condition(s)
- Name:
- SLC35A2-congenital disorder of glycosylation
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG IIm; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm, SOMATIC MOSAIC; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010478; MedGen: C3806688; Orphanet: 356961; OMIM: 300896
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Last Updated: Feb 20, 2024