NM_001297.5(CNGB1):c.3401C>T (p.Ala1134Val) AND Retinal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003889745.1
Allele description [Variation Report for NM_001297.5(CNGB1):c.3401C>T (p.Ala1134Val)]
NM_001297.5(CNGB1):c.3401C>T (p.Ala1134Val)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
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Last Updated: Jun 23, 2024