NM_003859.3(DPM1):c.506A>G (p.Asn169Ser) AND Congenital disorder of glycosylation type 1E
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001808420.11
Allele description [Variation Report for NM_003859.3(DPM1):c.506A>G (p.Asn169Ser)]
NM_003859.3(DPM1):c.506A>G (p.Asn169Ser)
Condition(s)
- Name:
- Congenital disorder of glycosylation type 1E (CDG1E)
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG Ie; CDG 1E; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012123; MedGen: C1837396; Orphanet: 79322; OMIM: 608799
Assertion and evidence details
Last Updated: Nov 30, 2024