NM_014249.4(NR2E3):c.222C>G (p.Ser74Arg) AND Retinitis Pigmentosa, Recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000352902.5
Allele description [Variation Report for NM_014249.4(NR2E3):c.222C>G (p.Ser74Arg)]
NM_014249.4(NR2E3):c.222C>G (p.Ser74Arg)
Condition(s)
- Name:
- Retinitis Pigmentosa, Recessive
- Identifiers:
- MedGen: CN239466
Assertion and evidence details
Last Updated: Sep 29, 2024