NM_004937.3(CTNS):c.76C>T (p.Leu26Phe) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002610462.2
Allele description [Variation Report for NM_004937.3(CTNS):c.76C>T (p.Leu26Phe)]
NM_004937.3(CTNS):c.76C>T (p.Leu26Phe)
Condition(s)
- Name:
- Ocular cystinosis
- Synonyms:
- Cystinosis, ocular nonnephropathic; Cystinosis, adult, nonnephropathic; Cystinosis, benign, nonnephropathic
- Identifiers:
- MONDO: MONDO:0009064; MedGen: C2931013; Orphanet: 213; OMIM: 219750
- Name:
- Juvenile nephropathic cystinosis
- Synonyms:
- CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
- Identifiers:
- MONDO: MONDO:0009066; MedGen: C0268626; Orphanet: 213; Orphanet: 411634; OMIM: 219900
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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leukocyte immunoglobulin-like receptor subfamily B member 1 isoform 6 precursor ...
leukocyte immunoglobulin-like receptor subfamily B member 1 isoform 6 precursor [Homo sapiens]gi|612149799|ref|NP_001265328.2|Protein
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UNVERIFIED: Chiastocheta dentifera isolate PPN12md tRNA-Gln gene, partial sequen...
UNVERIFIED: Chiastocheta dentifera isolate PPN12md tRNA-Gln gene, partial sequence; tRNA-Ile gene, complete sequence; and control region, partial sequence; mitochondrialgi|760451779|gb|KM255586.1|Nucleotide
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PREDICTED: Vitis vinifera DExH-box ATP-dependent RNA helicase DExH9 (LOC10025824...
PREDICTED: Vitis vinifera DExH-box ATP-dependent RNA helicase DExH9 (LOC100258243), transcript variant X1, mRNAgi|2581587138|ref|XM_002273066.5|Nucleotide
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LOC129931288 [Homo sapiens]
LOC129931288 [Homo sapiens]Gene ID:129931288Gene
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Last Updated: Feb 28, 2024