NM_000303.3(PMM2):c.240A>G (p.Lys80=) AND PMM2-congenital disorder of glycosylation
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001406563.7
Allele description [Variation Report for NM_000303.3(PMM2):c.240A>G (p.Lys80=)]
NM_000303.3(PMM2):c.240A>G (p.Lys80=)
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
-
TPA: Homo sapiens tRNA-Glu-TTC-4-1 gene
TPA: Homo sapiens tRNA-Glu-TTC-4-1 genegi|634721887|tpe|HG983782.1|Nucleotide
-
TPA: Homo sapiens tRNA-Glu-TTC-14-1 gene
TPA: Homo sapiens tRNA-Glu-TTC-14-1 genegi|634721909|tpe|HG983793.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024