NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter) AND Retinitis pigmentosa 39
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466893.1
Allele description [Variation Report for NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)]
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024