NM_005236.3(ERCC4):c.2475G>A (p.Ala825=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002064432.13
Allele description [Variation Report for NM_005236.3(ERCC4):c.2475G>A (p.Ala825=)]
NM_005236.3(ERCC4):c.2475G>A (p.Ala825=)
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
- 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: Nov 10, 2024