NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) AND PGM1-congenital disorder of glycosylation
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Dec 24, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000032991.37
Allele description [Variation Report for NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter)]
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter)
Condition(s)
- Name:
- PGM1-congenital disorder of glycosylation
- Synonyms:
- CDG It; Congenital disorder of glycosylation type 1t; PHOSPHOGLUCOMUTASE 1 DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013968; MedGen: C2752015; Orphanet: 319646; OMIM: 614921
Assertion and evidence details
Last Updated: Feb 20, 2024