CCDC88C

coiled-coil and HOOK domain protein 88C

Summary

This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]

Known Variants1,309 total

rsidPosition (GRCh37)AllelesClassClinVar
rs127674758714:91,738,975A/G—likely benign
rs77427375214:91,738,978G/A—likely benign
rs76368633414:91,738,981G/A—likely benign
rs36766153914:91,738,996G/A—likely benign
rs37007215414:91,739,002C/T—likely benign
rs1014284414:91,739,010C/T—uncertain significance
rs74869693914:91,739,011G/C—likely benign
rs36790567314:91,739,013C/T—likely benign
rs56245780114:91,739,014G/A—likely benign
rs74712446414:91,739,020C/T—likely benign
rs77102897514:91,739,021G/A—uncertain significance
rs37210370114:91,739,024G/C—uncertain significance
rs20097995414:91,739,029C/T—likely benign
rs20194026114:91,739,030G/A—uncertain significance
rs37276740514:91,739,032A/G—likely benign
rs135248141514:91,739,038C/T—likely benign
rs77320012614:91,739,044G/T—likely benign
rs37010236014:91,739,046C/T—uncertain significance
rs76571948314:91,739,047G/A—likely benign
rs77819948414:91,739,055G/A—uncertain significance
rs145066677214:91,739,059G/A—likely benign
rs117754829914:91,739,068C/T—likely benign
rs75728537014:91,739,073C/A—uncertain significance
rs18794923414:91,739,075C/T—uncertain significance
rs4556024114:91,739,076G/C—likely benign
rs94192014:91,739,081G/A—benign
rs77038071614:91,739,086G/T—likely benign
rs37620992514:91,739,098G/A—likely benign
rs381483914:91,739,102G/C—benign
rs6174546514:91,739,105C/T—likely benign
rs146864731714:91,739,106G/A—uncertain significance
rs4554273614:91,739,108C/G—benign
rs91982434914:91,739,120G/A—uncertain significance
rs254423721614:91,739,121C/A—uncertain significance
rs20081663414:91,739,122C/T—likely benign
rs78031732614:91,739,123G/A—uncertain significance
rs37359498414:91,739,128C/T—likely benign
rs4548579514:91,739,129C/G—uncertain significance
rs188979251814:91,739,131C/T—likely benign
rs77758587314:91,739,134A/C—uncertain significance
rs37056610514:91,739,140G/T—likely benign
rs37541186714:91,739,149C/T—likely benign
rs13892429514:91,739,150G/A—likely benign
rs76936935314:91,739,152G/A—likely benign
rs76262393014:91,739,158G/A—likely benign
rs145123595114:91,739,162C/T—uncertain significance
rs254423755514:91,739,173G/T—uncertain significance
rs134367947714:91,739,179C/T—likely benign
rs54272873014:91,739,187G/A—benign
rs75092106114:91,739,195G/T—uncertain significance
rs118483591314:91,739,201G/C—uncertain significance
rs38790732114:91,739,214——pathogenic
rs126173821914:91,739,215T/C—likely benign
rs37186257614:91,739,220G/A—uncertain significance
rs37527198414:91,739,227C/T—likely benign
rs77501362214:91,739,239G/A—likely benign
rs188979809614:91,739,245G/A—likely benign
rs74872286914:91,739,251C/T—likely benign
rs122403888314:91,739,254G/A—likely benign
rs76222785514:91,739,257T/G—likely benign
rs97028472614:91,739,262C/G—uncertain significance
rs76781555914:91,739,269G/A—likely benign
rs92863838114:91,739,278G/C—likely benign
rs254423805714:91,739,279A/C—uncertain significance
rs93863741514:91,739,284G/A—likely benign
rs99707549614:91,739,291C/T—uncertain significance
rs254423813214:91,739,292T/C—uncertain significance
rs6174139614:91,739,295C/T—benign
rs75498295814:91,739,299G/A—likely benign
rs98696897914:91,739,328T/A—uncertain significance
rs75616668914:91,739,338G/C—likely benign
rs125253749714:91,739,347G/A—likely benign
rs188980396014:91,739,362G/T—likely benign
rs125344262814:91,739,364G/A—uncertain significance
rs97370645114:91,739,366G/A—uncertain significance
rs74773461414:91,739,368C/T—likely benign
rs254423864714:91,739,380C/T—likely benign
rs254423865514:91,739,381T/G—uncertain significance
rs76694985614:91,739,388G/T—uncertain significance
rs77700098314:91,739,394G/A—likely benign
rs75967377414:91,739,395G/T—likely benign
rs6174212614:91,739,402C/T—likely benign
rs54761364814:91,739,407C/T—likely benign
rs78009418114:91,739,416C/T—likely benign
rs74912470814:91,739,417G/A—uncertain significance
rs56711050414:91,739,421G/A—benign
rs254423891214:91,739,425G/T—likely benign
rs77176172314:91,739,430G/C—uncertain significance
rs128494550214:91,739,437G/A—likely benign
rs254423898914:91,739,443A/T—pathogenic
rs254423902214:91,739,455A/G—likely benign
rs254423906914:91,739,464C/T—likely benign
rs36906944014:91,739,472G/A—conflicting classifications of pathogenicity
rs254423911014:91,739,473G/A—likely benign
rs20048887414:91,739,478G/A—conflicting classifications of pathogenicity
rs254423914314:91,739,479C/T—likely benign
rs254423915414:91,739,481C/A—pathogenic
rs77575749814:91,739,483C/T—uncertain significance
rs76053564414:91,739,503G/T—likely benign
rs75385001414:91,739,509T/C—likely benign

Showing 100 of 1,309 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.