NM_004937.3(CTNS):c.977G>A (p.Trp326Ter) AND Nephropathic cystinosis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475807.1
Allele description [Variation Report for NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)]
NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)
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
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JGI_XZT27761.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7603879 5'...
JGI_XZT27761.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7603879 5', mRNA sequencegi|74083572|gnl|dbEST|31248946|gb|C 78.2|Nucleotide
-
D5Bwg1346e DNA segment, Chr 5, Brigham & Women's Genetics 1346 expressed [Mus mu...
D5Bwg1346e DNA segment, Chr 5, Brigham & Women's Genetics 1346 expressed [Mus musculus]Gene ID:52821Gene
-
MFS transporter, putative [Aspergillus fischeri NRRL 181]
MFS transporter, putative [Aspergillus fischeri NRRL 181]gi|119494291|ref|XP_001264041.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023