NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001535890.10
Allele description [Variation Report for NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)]
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
Condition(s)
- Name:
- ALG8 congenital disorder of glycosylation
- Synonyms:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG Ih; Congenital disorder of glycosylation type 1H; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011969; MedGen: C2931002; Orphanet: 79325; OMIM: 608104
-
Campylobacter fetus subsp. venerealis str. Azul-94
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7 eggc.viprVM (1)
BioProject
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024