NM_000123.4(ERCC5):c.2941_2944del (p.Leu981fs) AND Xeroderma pigmentosum, group G
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003991741.2
Allele description [Variation Report for NM_000123.4(ERCC5):c.2941_2944del (p.Leu981fs)]
NM_000123.4(ERCC5):c.2941_2944del (p.Leu981fs)
Condition(s)
- Name:
- Xeroderma pigmentosum, group G (XPG)
- Synonyms:
- XP, GROUP G; Xeroderma pigmentosum VII; Xeroderma pigmentosum complementation group G; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010216; MedGen: C0268141; OMIM: 278780
Assertion and evidence details
Last Updated: Sep 1, 2024