NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) AND Xeroderma pigmentosum, group F
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Mar 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000351813.9
Allele description [Variation Report for NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser)]
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser)
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