NM_004937.3(CTNS):c.*1046_*1047dup AND Cystinosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000261154.5
Allele description [Variation Report for NM_004937.3(CTNS):c.*1046_*1047dup]
NM_004937.3(CTNS):c.*1046_*1047dup
Condition(s)
- Name:
- Cystinosis
- Synonyms:
- Cystine diathesis; Cystine disease; Cystine storage disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016239; MedGen: C4316899
Assertion and evidence details
Last Updated: Apr 9, 2023