NM_015386.3(COG4):c.2163G>A (p.Thr721=) AND COG4-congenital disorder of glycosylation
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000865333.8
Allele description [Variation Report for NM_015386.3(COG4):c.2163G>A (p.Thr721=)]
NM_015386.3(COG4):c.2163G>A (p.Thr721=)
Condition(s)
- Name:
- COG4-congenital disorder of glycosylation
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG IIj; Congenital disorder of glycosylation type 2J; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013281; MedGen: C4303552; Orphanet: 263501; OMIM: 613489
Assertion and evidence details
Last Updated: Feb 28, 2024