NM_000030.3(AGXT):c.175G>A (p.Glu59Lys) AND Primary hyperoxaluria, type I
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 27, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000186284.10
Allele description [Variation Report for NM_000030.3(AGXT):c.175G>A (p.Glu59Lys)]
NM_000030.3(AGXT):c.175G>A (p.Glu59Lys)
Condition(s)
- Name:
- Primary hyperoxaluria, type I (HP1)
- Synonyms:
- OXALOSIS I; Primary hyperoxaluria type 1; Oxalosis 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009823; MedGen: C0268164; Orphanet: 416; Orphanet: 93598; OMIM: 259900
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cleavage polyadenylation factor subunit CLP1 [Mycosarcoma maydis]
cleavage polyadenylation factor subunit CLP1 [Mycosarcoma maydis]gi|758978771|ref|XP_011389435.1|Protein
-
caskin-2 isoform X1 [Cuculus canorus]
caskin-2 isoform X1 [Cuculus canorus]gi|2452549562|ref|XP_053938894.1|Protein
-
cytochrome o ubiquinol oxidase subunit IV [Pantoea jilinensis]
cytochrome o ubiquinol oxidase subunit IV [Pantoea jilinensis]gi|2063032688|gnl|PRJNA740152|KTJ90 5|gb|QXG53841.1|Protein
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cytochrome o ubiquinol oxidase subunit IV [Candidatus Liberibacter asiaticus str...
cytochrome o ubiquinol oxidase subunit IV [Candidatus Liberibacter asiaticus str. gxpsy]gi|461413076|gnl|USDAARS|WSI_01690| H16708.1|Protein
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Shewanella xiamenensis strain CW86-2 OXA-48 family carbapenem-hydrolyzing class ...
Shewanella xiamenensis strain CW86-2 OXA-48 family carbapenem-hydrolyzing class D beta-lactamase OXA-1038 (blaOXA) gene, blaOXA-1038 allele, complete cdsgi|2099742771|gb|OK180617.1|Nucleotide
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Last Updated: Oct 13, 2024