NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002477838.1
Allele description [Variation Report for NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr)]
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr)
Condition(s)
- Name:
- Xeroderma pigmentosum, group F (XPF)
- Synonyms:
- XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XERODERMA PIGMENTOSUM VI; XP, GROUP F; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010215; MedGen: C0268140; OMIM: 278760
Assertion and evidence details
Last Updated: Sep 29, 2024