NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr) AND Xeroderma pigmentosum, group G
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Mar 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001844340.4
Allele description [Variation Report for NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr)]
NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr)
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 29, 2024