NM_001042472.2(ABHD12):c.557G>C (p.Arg186Pro) AND Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 1, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000132769.3
Allele description
NM_001042472.2(ABHD12):c.557G>C (p.Arg186Pro)
Condition(s)
Assertion and evidence details
Last Updated: Sep 12, 2018