NM_000396.4(CTSK):c.685G>A (p.Glu229Lys) AND Pyknodysostosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001099375.4
Allele description [Variation Report for NM_000396.4(CTSK):c.685G>A (p.Glu229Lys)]
NM_000396.4(CTSK):c.685G>A (p.Glu229Lys)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023