NM_002408.4(MGAT2):c.805T>C (p.Tyr269His) AND MGAT2-congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003082921.3
Allele description [Variation Report for NM_002408.4(MGAT2):c.805T>C (p.Tyr269His)]
NM_002408.4(MGAT2):c.805T>C (p.Tyr269His)
Condition(s)
- Name:
- MGAT2-congenital disorder of glycosylation
- Synonyms:
- CDG IIa; Congenital disorder of glycosylation type 2A; CDG 2A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008908; MedGen: C2931008; Orphanet: 79329; OMIM: 212066
Assertion and evidence details
Last Updated: Sep 29, 2024