NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys) AND Cockayne syndrome type 2
- 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:
- RCV000280376.5
Allele description [Variation Report for NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys)]
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024