NM_004937.3(CTNS):c.61+2T>C AND Nephropathic cystinosis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475282.1
Allele description [Variation Report for NM_004937.3(CTNS):c.61+2T>C]
NM_004937.3(CTNS):c.61+2T>C
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
-
cytosolic endo-beta-N-acetylglucosaminidase isoform 2 [Homo sapiens]
cytosolic endo-beta-N-acetylglucosaminidase isoform 2 [Homo sapiens]gi|2098438764|ref|NP_001382982.1|Protein
-
Xenopus tropicalis grainyhead like transcription factor 3 (grhl3), mRNA
Xenopus tropicalis grainyhead like transcription factor 3 (grhl3), mRNAgi|54020792|ref|NM_001005642.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024