NM_000030.3(AGXT):c.537G>C (p.Leu179=) AND Primary hyperoxaluria, type I
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001143775.5
Allele description [Variation Report for NM_000030.3(AGXT):c.537G>C (p.Leu179=)]
NM_000030.3(AGXT):c.537G>C (p.Leu179=)
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
Assertion and evidence details
Last Updated: Sep 29, 2024