NM_153603.4(COG7):c.19C>T (p.Leu7=) AND COG7 congenital disorder of glycosylation
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002700569.3
Allele description [Variation Report for NM_153603.4(COG7):c.19C>T (p.Leu7=)]
NM_153603.4(COG7):c.19C>T (p.Leu7=)
Condition(s)
- Name:
- COG7 congenital disorder of glycosylation (CDG2E)
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG IIe; Congenital disorder of glycosylation type 2E; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012118; MedGen: C2931010; Orphanet: 79333; OMIM: 608779
Assertion and evidence details
Last Updated: Sep 29, 2024