NM_001142800.2(EYS):c.6410G>A (p.Arg2137His) 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:
- RCV003887953.1
Allele description [Variation Report for NM_001142800.2(EYS):c.6410G>A (p.Arg2137His)]
NM_001142800.2(EYS):c.6410G>A (p.Arg2137His)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
unknown [Zea mays]
unknown [Zea mays]gi|194700832|gb|ACF84500.1|Protein
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Last Updated: Oct 8, 2024