NM_000396.4(CTSK):c.905G>A (p.Trp302Ter) AND Pyknodysostosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003467528.1
Allele description [Variation Report for NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)]
NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)
Condition(s)
-
NDRG2[gene] (96)
ClinVar
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Last Updated: Feb 28, 2024