NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) AND ALG9 congenital disorder of glycosylation
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001079380.16
Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)]
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)
Condition(s)
- Name:
- ALG9 congenital disorder of glycosylation (CDG1L)
- Synonyms:
- CDG Il; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG 1L; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012117; MedGen: C2931006; Orphanet: 79328; OMIM: 608776
-
AMP-binding enzyme [Mycolicibacterium smegmatis MC2 155]
AMP-binding enzyme [Mycolicibacterium smegmatis MC2 155]gi|118172188|gnl|tigr|MSMEG_4254|gb 3084.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024