NM_012203.2(GRHPR):c.214+1G>C AND Primary hyperoxaluria, type II
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 31, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000667472.1
Allele description [Variation Report for NM_012203.2(GRHPR):c.214+1G>C]
NM_012203.2(GRHPR):c.214+1G>C
Condition(s)
- Name:
- Primary hyperoxaluria, type II (HP2)
- Synonyms:
- OXALOSIS II; Primary hyperoxaluria type 2; Oxalosis 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009824; MedGen: C0268165; Orphanet: 416; Orphanet: 93599; OMIM: 260000
Assertion and evidence details
Last Updated: Jun 10, 2023