ADAMTS17 Chromosome 15

ADAM metallopeptidase with thrombospondin type 1 motif 17
111 variants 111 Health Risk

Upload your DNA to see your personal genotypes for variants in ADAMTS17.

What This Gene Does
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
15q26.3
Ensembl
ENSG00000140470
Associated Conditions (6)
Weill-Marchesani 4 syndrome
recessive
Inborn genetic diseases
ADAMTS17-related disorder
Ovarian serous cystadenocarcinoma
Anterior segment dysgenesis
Key Variants
RS1360871464
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS139059770
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS139105066
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS140930935
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Inborn genetic diseases
Health Risk
RS141373128
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, ADAMTS17-related disorder
Health Risk
RS143480636
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143817747
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, ADAMTS17-related disorder
Health Risk
RS143891379
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS143896591
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS144007074
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS144662002
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS1447997408
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
All Variants (111)
RSID Category Clinical Significance Conditions
RS1360871464 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS139059770 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS139105066 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS140930935 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Inborn genetic diseases
RS141373128 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, ADAMTS17-related disorder
RS143480636 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143817747 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, ADAMTS17-related disorder
RS143891379 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS143896591 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS144007074 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS144662002 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS1447997408 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS144817994 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS144928920 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1450190162 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS145206425 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS146286415 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS146651611 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS146934810 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, ADAMTS17-related disorder
RS147286623 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS149252796 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS150290429 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS150431950 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS200475413 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS200673902 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Inborn genetic diseases
RS200766799 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS200809221 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS201219446 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS201586136 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS201896149 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS201920741 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS371229459 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS373353462 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS374137320 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS374520210 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS374725364 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS377212581 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS377670601 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS533437573 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, ADAMTS17-related disorder
RS545996605 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS550282581 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS557358714 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS558036408 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS565893965 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS746354760 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS749551110 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS751012843 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS753804023 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS756053197 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
RS758555346 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
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