NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) AND Cockayne syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000383439.1
Allele description
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
Condition(s)
- Name:
- Cockayne syndrome
- Synonyms:
- Cockayne's syndrome; Dwarfism-retinal atrophy-deafness syndrome; Progeria-like syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016006; MedGen: C0009207
Assertion and evidence details
Last Updated: May 19, 2020