NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) AND Nephropathic cystinosis
- Germline classification:
- Pathogenic (5 submissions)
- Last evaluated:
- Mar 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000004708.14
Allele description [Variation Report for NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)]
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)
Condition(s)
- Name:
- Nephropathic cystinosis (CTNS)
- Synonyms:
- Lysosomal cystine transport protein, defect of; Cystinosin, defect of; Abderhalden Lignac Kaufmann disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100151; MedGen: C2931187; Orphanet: 213; Orphanet: 411629; OMIM: 219800
Assertion and evidence details
Last Updated: Aug 25, 2024