NM_012203.2(GRHPR):c.783dup (p.Lys262Ter) AND Primary hyperoxaluria, type II
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 17, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000666154.1
Allele description [Variation Report for NM_012203.2(GRHPR):c.783dup (p.Lys262Ter)]
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter)
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: Apr 23, 2022