NM_024105.4(ALG12):c.160C>T (p.Gln54Ter) AND ALG12-congenital disorder of glycosylation
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003608001.1
Allele description [Variation Report for NM_024105.4(ALG12):c.160C>T (p.Gln54Ter)]
NM_024105.4(ALG12):c.160C>T (p.Gln54Ter)
Condition(s)
- Name:
- ALG12-congenital disorder of glycosylation (CDG1G)
- Synonyms:
- CDG Ig; CDG 1G; Congenital disorder of glycosylation, type Ig; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011783; MedGen: C2931001; Orphanet: 79324; OMIM: 607143
Assertion and evidence details
Last Updated: Feb 28, 2024