EGF Chromosome 4

Epidermal growth factor
25 variants 25 Health Risk

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What This Gene Does
This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Associated Conditions (3)
Renal hypomagnesemia 4
EGF-related disorder
Acute myeloid leukemia
Key Variants
RS139266578
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, Renal hypomagnesemia 4
Health Risk
RS140319442
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, Renal hypomagnesemia 4
Health Risk
RS140682556
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
Health Risk
RS140730971
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, Renal hypomagnesemia 4
Health Risk
RS141644661
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
Health Risk
RS143612590
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, Renal hypomagnesemia 4
Health Risk
RS150311153
Conflicting classifications of pathogenicity
EGF-related disorder, EGF-related disorder
Health Risk
RS199756953
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, Acute myeloid leukemia, Renal hypomagnesemia 4
Health Risk
RS200400376
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
Health Risk
RS200524686
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, Renal hypomagnesemia 4
Health Risk
RS201101453
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
Health Risk
RS368323208
Conflicting classifications of pathogenicity
Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
Health Risk
All Variants (25)
RSID Category Clinical Significance Conditions
RS139266578 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS140319442 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS140682556 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
RS140730971 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS141644661 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
RS143612590 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS150311153 Health Risk Conflicting classifications of pathogenicity EGF-related disorder, EGF-related disorder
RS199756953 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Acute myeloid leukemia, Renal hypomagnesemia 4
RS200400376 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
RS200524686 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS201101453 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
RS368323208 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
RS375886742 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS376855018 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS377445081 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS41468451 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
RS548762791 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS760507781 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS76275519 Health Risk Conflicting classifications of pathogenicity
RS763336139 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, EGF-related disorder, Renal hypomagnesemia 4
RS764312466 Health Risk Conflicting classifications of pathogenicity
RS767958539 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS971946479 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS764061176 Health Risk Likely pathogenic
RS121434567 Health Risk Pathogenic Renal hypomagnesemia 4, Renal hypomagnesemia 4
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