NM_014908.4(DOLK):c.1229A>T (p.Tyr410Phe) AND DK1-congenital disorder of glycosylation
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001905474.6
Allele description [Variation Report for NM_014908.4(DOLK):c.1229A>T (p.Tyr410Phe)]
NM_014908.4(DOLK):c.1229A>T (p.Tyr410Phe)
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
-
Chain C, Estrogen-related receptor gamma
Chain C, Estrogen-related receptor gammagi|116667335|pdb|2GPV|CProtein
-
Taraxacum multidenticulatum (62546)
Nucleotide
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Last Updated: Sep 29, 2024