rs114723899
This variant is located in the ERCC6 gene.
▶ClinVar annotation
Cerebrooculofacioskeletal syndrome 1; Age related macular degeneration 5; Cockayne syndrome type 2; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Genetic variations in vitamin D-related pathways and breast cancer risk in African American women in the AMBER consortiumAssociationN=8,350Song Yao et al.(2016)· International Journal of Cancer
A case-control study of 3,663 African American women with breast cancer and 4,687 controls from the AMBER consortium examined associations between vitamin D-related genetic variants and breast cancer risk. The study identified several variants in genes including CASR, ERCC6, DDB2, and REV1 associated with breast cancer risk overall and by estrogen receptor status. Notable findings include rs9308822 (REV1, OR=0.86, p=1.1×10⁻⁴) for overall breast cancer, rs114723899 (ERCC6, OR=0.62, p=4.3×10⁻⁵) for ER+ breast cancer, and rs112594756 (CASR, OR=1.27, p=7.3×10⁻⁵) associated with ER-negative disease.
About ERCC6
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
View all ERCC6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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