NM_000303.3(PMM2):c.51C>G (p.Leu17=) AND PMM2-congenital disorder of glycosylation
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003510164.1
Allele description [Variation Report for NM_000303.3(PMM2):c.51C>G (p.Leu17=)]
NM_000303.3(PMM2):c.51C>G (p.Leu17=)
Condition(s)
- Name:
- PMM2-congenital disorder of glycosylation
- Synonyms:
- CDG Ia; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia; CDG 1A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008907; MedGen: C0349653; Orphanet: 79318; OMIM: 212065
-
GSE29994[ACCN] AND gsm[ETYP] (3)
GEO DataSets
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 20, 2024