NM_000330.4(RS1):c.329G>A (p.Cys110Tyr) AND Retinoschisis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 23, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001003219.9
Allele description [Variation Report for NM_000330.4(RS1):c.329G>A (p.Cys110Tyr)]
NM_000330.4(RS1):c.329G>A (p.Cys110Tyr)
Condition(s)
- Name:
- Retinoschisis
- Identifiers:
- MONDO: MONDO:0004579; MedGen: C0152439; Human Phenotype Ontology: HP:0030502
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Timoniella imbutiforme isolate YK180 large subunit ribosomal RNA gene, partial s...
Timoniella imbutiforme isolate YK180 large subunit ribosomal RNA gene, partial sequencegi|1216632242|gb|MF491861.1|Nucleotide
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mgat4a [Poecilia reticulata]
mgat4a [Poecilia reticulata]Gene ID:103479891Gene
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Last Updated: Sep 29, 2024