NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) AND Ataxia - oculomotor apraxia type 4
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003387793.1
Allele description [Variation Report for NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg)]
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg)
Condition(s)
Assertion and evidence details
Last Updated: Jun 9, 2024