NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) AND Retinitis pigmentosa 39
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003459585.1
Allele description [Variation Report for NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)]
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
Condition(s)
Assertion and evidence details
Last Updated: Nov 30, 2024