NM_000666.3(ACY1):c.19G>C (p.Glu7Gln) AND Aminoacylase 1 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 27, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001331352.1
Allele description [Variation Report for NM_000666.3(ACY1):c.19G>C (p.Glu7Gln)]
NM_000666.3(ACY1):c.19G>C (p.Glu7Gln)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022