NM_001195248.2(APTX):c.*606G>A AND Coenzyme Q10 deficiency, Oculomotor Apraxia Type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000376611.5
Allele description [Variation Report for NM_001195248.2(APTX):c.*606G>A]
NM_001195248.2(APTX):c.*606G>A
Condition(s)
- Name:
- Coenzyme Q10 deficiency, Oculomotor Apraxia Type
- Identifiers:
- MedGen: CN239212
Assertion and evidence details
Last Updated: Dec 24, 2023