NM_002435.3(MPI):c.487+2del AND MPI-congenital disorder of glycosylation
- Germline classification:
- Likely pathogenic (4 submissions)
- Last evaluated:
- Dec 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000410117.11
Allele description [Variation Report for NM_002435.3(MPI):c.487+2del]
NM_002435.3(MPI):c.487+2del
Condition(s)
- Name:
- MPI-congenital disorder of glycosylation
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG Ib; Congenital disorder of glycosylation type 1B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011257; MedGen: C1865145; Orphanet: 79319; OMIM: 602579
Assertion and evidence details
Last Updated: Mar 10, 2024