NM_014855.3(AP5Z1):c.838A>G (p.Thr280Ala) AND Hereditary spastic paraplegia 48
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000808473.5
Allele description [Variation Report for NM_014855.3(AP5Z1):c.838A>G (p.Thr280Ala)]
NM_014855.3(AP5Z1):c.838A>G (p.Thr280Ala)
Condition(s)
Assertion and evidence details
Last Updated: Feb 7, 2023