rs587778282

This variant is located in the ERCC4 gene.

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ClinVar annotation

Uncertain Significance★★★☆
6 submitters3 publications

not specified; Xeroderma pigmentosum, group F; Xeroderma pigmentosum, group F;Cockayne syndrome;Fanconi anemia complementation group Q; Xeroderma pigmentosum, group F;XFE progeroid syndrome;Fanconi anemia complementation group Q; ERCC4-related disorder; Xeroderma pigmentosum

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About ERCC4

The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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