NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs) AND Autosomal recessive retinitis pigmentosa
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 10, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001257842.1
Allele description [Variation Report for NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs)]
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs)
Condition(s)
- Name:
- Autosomal recessive retinitis pigmentosa
- Identifiers:
- MedGen: C0339526
Assertion and evidence details
Last Updated: Mar 30, 2024