NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 8, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000662320.1
Allele description [Variation Report for NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)]
NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)
Condition(s)
- Name:
- Nephrocalcinosis
- Synonyms:
- Hypercalcemic nephropathy
- Identifiers:
- MONDO: MONDO:0001567; MedGen: C0027709; Human Phenotype Ontology: HP:0000121
- Name:
- Nephrolithiasis
- Identifiers:
- MONDO: MONDO:0008171; MedGen: C0392525; Human Phenotype Ontology: HP:0000787
Assertion and evidence details
Last Updated: Jul 29, 2024