NM_000350.3(ABCA4):c.331G>C (p.Glu111Gln) AND Stargardt Disease, 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:
- RCV000286803.5
Allele description [Variation Report for NM_000350.3(ABCA4):c.331G>C (p.Glu111Gln)]
NM_000350.3(ABCA4):c.331G>C (p.Glu111Gln)
Condition(s)
- Name:
- Stargardt Disease, Recessive
- Identifiers:
- MedGen: CN239312
Assertion and evidence details
Last Updated: Mar 30, 2024