NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV005031397.1
Allele description [Variation Report for NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)]
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)
Condition(s)
Assertion and evidence details
Last Updated: May 16, 2025