NM_024105.4(ALG12):c.29G>A (p.Arg10Gln) AND ALG12-congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001933192.4
Allele description [Variation Report for NM_024105.4(ALG12):c.29G>A (p.Arg10Gln)]
NM_024105.4(ALG12):c.29G>A (p.Arg10Gln)
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
-
An01g06620 [Aspergillus niger]
An01g06620 [Aspergillus niger]Gene ID:4977721Gene
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Last Updated: May 1, 2024