NM_152268.4(PARS2):c.283G>A (p.Val95Ile) AND PARS2-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 26, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000723278.1
Allele description [Variation Report for NM_152268.4(PARS2):c.283G>A (p.Val95Ile)]
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
Condition(s)
- Name:
- PARS2-related disorder
- Identifiers:
Assertion and evidence details
Last Updated: Sep 29, 2024