NM_018451.5(CENPJ):c.1263G>C (p.Gln421His) AND Seckel syndrome 4
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 26, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000194381.6
Allele description [Variation Report for NM_018451.5(CENPJ):c.1263G>C (p.Gln421His)]
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024