NM_000303.3(PMM2):c.264_265del (p.His90fs) AND PMM2-congenital disorder of glycosylation
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 15, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001389071.5
Allele description [Variation Report for NM_000303.3(PMM2):c.264_265del (p.His90fs)]
NM_000303.3(PMM2):c.264_265del (p.His90fs)
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
-
Saccharomyces cerevisiae S288C Aim24p (AIM24), partial mRNA
Saccharomyces cerevisiae S288C Aim24p (AIM24), partial mRNAgi|296146086|ref|NM_001181738.1|Nucleotide
-
dai20e10.x1 NICHD_XGC_Emb4 Xenopus laevis cDNA clone IMAGE:4959859 3' similar to...
dai20e10.x1 NICHD_XGC_Emb4 Xenopus laevis cDNA clone IMAGE:4959859 3' similar to SW:VATD_BOVIN P39942 VACUOLAR ATP SYNTHASE SUBUNIT D, mRNA sequencegi|17923425|gnl|dbEST|10653478|gb|B 85.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024