NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) AND Cockayne syndrome type 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 29, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000170389.1
Allele description [Variation Report for NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter)]
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024