NM_012463.4(ATP6V0A2):c.1351C>T (p.Arg451Trp) AND ALG9 congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001975534.4
Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.1351C>T (p.Arg451Trp)]
NM_012463.4(ATP6V0A2):c.1351C>T (p.Arg451Trp)
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: Dec 24, 2023