DLEC1 Chromosome 3

DLEC1 cilia and flagella associated protein
3 variants 3 Health Risk

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What This Gene Does
The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of aberrant promoter methylation. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins.[provided by RefSeq, Mar 2016]
Gene Info
Gene Group
Cilia and flagella associated
Locus Type
gene with protein product
Location
3p22.2
Ensembl
ENSG00000008226
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS200013784 Health Risk Conflicting classifications of pathogenicity
RS202125600 Health Risk Conflicting classifications of pathogenicity
RS76603930 Health Risk Conflicting classifications of pathogenicity
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