NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys) AND ALG9 congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003147866.1
Allele description [Variation Report for NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys)]
NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys)
Condition(s)
- Name:
- ALG9 congenital disorder of glycosylation (CDG1L)
- Synonyms:
- CDG Il; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG 1L; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012117; MedGen: C2931006; Orphanet: 79328; OMIM: 608776
Assertion and evidence details
Last Updated: Jul 29, 2023