NM_020964.3(EPG5):c.3447G>A (p.Trp1149Ter) AND Syndromic retinitis pigmentosa
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 23, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001003007.1
Allele description [Variation Report for NM_020964.3(EPG5):c.3447G>A (p.Trp1149Ter)]
NM_020964.3(EPG5):c.3447G>A (p.Trp1149Ter)
Condition(s)
- Name:
- Syndromic retinitis pigmentosa
- Identifiers:
- MedGen: C5680332
Assertion and evidence details
Last Updated: Jan 26, 2024