NM_014908.4(DOLK):c.407T>C (p.Val136Ala) AND DK1-congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000556297.6
Allele description [Variation Report for NM_014908.4(DOLK):c.407T>C (p.Val136Ala)]
NM_014908.4(DOLK):c.407T>C (p.Val136Ala)
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: Feb 20, 2024