NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala) AND Retinal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 30, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001074254.2
Allele description [Variation Report for NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)]
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)
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: Sep 29, 2024