NM_000285.4(PEPD):c.1470T>C (p.Ser490=) AND Prolidase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000360329.5
Allele description [Variation Report for NM_000285.4(PEPD):c.1470T>C (p.Ser490=)]
NM_000285.4(PEPD):c.1470T>C (p.Ser490=)
Condition(s)
Assertion and evidence details
Last Updated: May 19, 2024