NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys) AND Pachyonychia congenita 3
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Jul 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000128821.14
Allele description [Variation Report for NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys)]
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024