NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) AND Autosomal recessive retinitis pigmentosa
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 26, 2012
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001257895.9
Allele description [Variation Report for NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)]
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)
Condition(s)
- Name:
- Autosomal recessive retinitis pigmentosa
- Identifiers:
- MedGen: C0339526
Assertion and evidence details
Last Updated: Sep 1, 2024