NM_000030.3(AGXT):c.331C>T (p.Arg111Ter) AND Primary hyperoxaluria, type I
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Jun 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000186297.6
Allele description [Variation Report for NM_000030.3(AGXT):c.331C>T (p.Arg111Ter)]
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter)
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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See more...Assertion and evidence details
Last Updated: Sep 29, 2024