NM_006416.5(SLC35A1):c.963A>G (p.Thr321=) AND SLC35A1-congenital disorder of glycosylation
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003091941.2
Allele description [Variation Report for NM_006416.5(SLC35A1):c.963A>G (p.Thr321=)]
NM_006416.5(SLC35A1):c.963A>G (p.Thr321=)
Condition(s)
- Name:
- SLC35A1-congenital disorder of glycosylation
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG IIf; Congenital disorder of glycosylation type 2F; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011342; MedGen: C1970344; Orphanet: 238459; OMIM: 603585
Assertion and evidence details
Last Updated: Feb 20, 2024