NM_001382.4(DPAGT1):c.918-18G>A AND multiple conditions
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002058044.6
Allele description [Variation Report for NM_001382.4(DPAGT1):c.918-18G>A]
NM_001382.4(DPAGT1):c.918-18G>A
Condition(s)
- Name:
- DPAGT1-congenital disorder of glycosylation
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG Ij; Congenital disorder of glycosylation type 1J; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011964; MedGen: C2931004; Orphanet: 86309; OMIM: 608093
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SRA Links for BioProject (Select 606284) (150)
SRA
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BioProject Links for Nucleotide (Select 2063304612) (1)
BioProject
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Last Updated: Jun 17, 2024