NM_000107.3(DDB2):c.254C>G (p.Ser85Cys) AND Xeroderma pigmentosum, group E
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001104635.4
Allele description [Variation Report for NM_000107.3(DDB2):c.254C>G (p.Ser85Cys)]
NM_000107.3(DDB2):c.254C>G (p.Ser85Cys)
Condition(s)
- Name:
- Xeroderma pigmentosum, group E (XPE)
- Synonyms:
- XERODERMA PIGMENTOSUM V; XP, GROUP E; Xeroderma pigmentosum, complementation group E; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010213; MedGen: C1848411; Orphanet: 910; OMIM: 278740
Assertion and evidence details
Last Updated: Apr 9, 2023