rs61754854
This variant is located in the ADAMTS9 gene.
▶ClinVar annotation
not provided; ADAMTS9-related disorder; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1; Melanoma; Malignant tumor of esophagus; Lung cancer; Clear cell carcinoma of kidney; Thymoma; Uterine corpus endometrial carcinoma
View on ClinVar →About ADAMTS9
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family 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. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
View all ADAMTS9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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