NM_004870.4(MPDU1):c.411C>T (p.Tyr137=) AND MPDU1-congenital disorder of glycosylation
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- 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:
- RCV000275496.11
Allele description [Variation Report for NM_004870.4(MPDU1):c.411C>T (p.Tyr137=)]
NM_004870.4(MPDU1):c.411C>T (p.Tyr137=)
Condition(s)
- Name:
- MPDU1-congenital disorder of glycosylation
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG If; Congenital disorder of glycosylation type 1F; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012211; MedGen: C1836669; Orphanet: 79323; OMIM: 609180
Assertion and evidence details
Last Updated: May 12, 2024