NM_007254.4(PNKP):c.1497G>A (p.Leu499=) AND PNKP-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 16, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004542791.1
Allele description [Variation Report for NM_007254.4(PNKP):c.1497G>A (p.Leu499=)]
NM_007254.4(PNKP):c.1497G>A (p.Leu499=)
Condition(s)
- Name:
- PNKP-related disorder
- Synonyms:
- PNKP-related disorders; PNKP-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Sep 29, 2024