NM_004937.3(CTNS):c.970+9G>A AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002555191.10
Allele description [Variation Report for NM_004937.3(CTNS):c.970+9G>A]
NM_004937.3(CTNS):c.970+9G>A
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
-
Homo sapiens peripheral myelin protein 2 (PMP2), transcript variant 1, mRNA
Homo sapiens peripheral myelin protein 2 (PMP2), transcript variant 1, mRNAgi|1143077036|ref|NM_002677.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024