NM_002408.4(MGAT2):c.354G>A (p.Leu118=) AND MGAT2-congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001109333.4
Allele description [Variation Report for NM_002408.4(MGAT2):c.354G>A (p.Leu118=)]
NM_002408.4(MGAT2):c.354G>A (p.Leu118=)
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: Dec 24, 2023