NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe) AND DK1-congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Oct 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001967779.7
Allele description [Variation Report for NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe)]
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe)
Condition(s)
- Name:
- DK1-congenital disorder of glycosylation
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG Im; DK1 DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012556; MedGen: C1835849; Orphanet: 91131; OMIM: 610768
Assertion and evidence details
Last Updated: Sep 29, 2024