NM_000030.3(AGXT):c.326G>T (p.Gly109Val) 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:
- RCV000186296.10
Allele description [Variation Report for NM_000030.3(AGXT):c.326G>T (p.Gly109Val)]
NM_000030.3(AGXT):c.326G>T (p.Gly109Val)
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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cytochrome b, partial (mitochondrion) [Cyanistes caeruleus caeruleus]
cytochrome b, partial (mitochondrion) [Cyanistes caeruleus caeruleus]gi|17530040|gb|AAL40683.1|Protein
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Pseudomonas sp. DNA gyrase subunit B (gyrB) gene, partial cds.
Pseudomonas sp. DNA gyrase subunit B (gyrB) gene, partial cds.PopSet: 2722335387PopSet
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Candidatus Streptomyces philanthi biovar gloriosus 16S ribosomal RNA gene, parti...
Candidatus Streptomyces philanthi biovar gloriosus 16S ribosomal RNA gene, partial sequencegi|87245222|gb|DQ375789.1|Nucleotide
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Last Updated: Oct 26, 2024