NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp) AND DK1-congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 25, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000639755.2
Allele description [Variation Report for NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp)]
NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp)
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
-
Rattus norvegicus glutamate dehydrogenase 1 (Glud1), mRNA; nuclear gene for mito...
Rattus norvegicus glutamate dehydrogenase 1 (Glud1), mRNA; nuclear gene for mitochondrial productgi|401709954|ref|NM_012570.2|Nucleotide
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Last Updated: May 7, 2024