NM_006348.5(COG5):c.293-11T>C AND COG5-congenital disorder of glycosylation
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003610618.1
Allele description [Variation Report for NM_006348.5(COG5):c.293-11T>C]
NM_006348.5(COG5):c.293-11T>C
Condition(s)
- Name:
- COG5-congenital disorder of glycosylation
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; Congenital disorder of glycosylation type 2i; CDG IIi; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013325; MedGen: C3150876; Orphanet: 263487; OMIM: 613612
Assertion and evidence details
Last Updated: Feb 28, 2024