NM_014249.4(NR2E3):c.143G>A (p.Arg48His) AND Enhanced S-cone syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001118175.6
Allele description [Variation Report for NM_014249.4(NR2E3):c.143G>A (p.Arg48His)]
NM_014249.4(NR2E3):c.143G>A (p.Arg48His)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024