NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter) AND Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000989659.1
Allele description [Variation Report for NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter)]
NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter)
Condition(s)
Assertion and evidence details
Last Updated: Feb 4, 2024