NM_014908.3(DOLK):c.631C>T (p.Arg211Cys) AND Congenital disorder of glycosylation type 1M
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 4, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000529281.2
Allele description
NM_014908.3(DOLK):c.631C>T (p.Arg211Cys)
Condition(s)
- Name:
- Congenital disorder of glycosylation type 1M (CDG1M)
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG Im; DK1 DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MedGen: C1835849; Orphanet: 91131; OMIM: 610768
Assertion and evidence details
Last Updated: Nov 2, 2019