NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) 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:
- RCV001257798.1
Allele description [Variation Report for NM_006343.3(MERTK):c.325A>T (p.Lys109Ter)]
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter)
Condition(s)
- Name:
- Autosomal recessive retinitis pigmentosa
- Identifiers:
- MedGen: C0339526
Assertion and evidence details
Last Updated: Aug 11, 2024