NM_006302.3(MOGS):c.1201G>A (p.Gly401Arg) AND MOGS-congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000821870.5
Allele description [Variation Report for NM_006302.3(MOGS):c.1201G>A (p.Gly401Arg)]
NM_006302.3(MOGS):c.1201G>A (p.Gly401Arg)
Condition(s)
- Name:
- MOGS-congenital disorder of glycosylation
- Synonyms:
- CDG IIb; GLUCOSIDASE I DEFICIENCY; Congenital disorder of glycosylation type 2B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011629; MedGen: C1853736; Orphanet: 79330; OMIM: 606056
Assertion and evidence details
Last Updated: Feb 14, 2024