All variants in the CDK16 gene

Information The variants shown are described using the NM_033018.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - c.-3731T>G r.(?) p.(=) - VUS g.47074321T>G g.47214922T>G UBA1(NM_003334.4):c.3170T>G (p.I1057S) - UBA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2T>C r.(?) p.(Met1?) - VUS g.47078053T>C g.47218654T>C CDK16(NM_033018.3):c.2T>C (p.M1?) - CDK16_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.10G>C r.(?) p.(Glu4Gln) - likely benign g.47078061G>C g.47218662G>C CDK16(NM_033018.3):c.10G>C (p.E4Q) - UBA1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.11A>C r.(?) p.(Glu4Ala) - likely benign g.47078062A>C - CDK16(NM_033018.3):c.11A>C (p.E4A) - UBA1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.13-390C>T r.(=) p.(=) - VUS g.47082561C>T g.47223162C>T CDK16(NM_001170460.1):c.67C>T (p.R23*) - CDK16_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.13-386C>G r.(=) p.(=) - VUS g.47082565C>G g.47223166C>G CDK16(NM_001170460.1):c.71C>G (p.(Pro24Arg)) - CDK16_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.13-335C>G r.(=) p.(=) - VUS g.47082616C>G g.47223217C>G CDK16(NM_001170460.1):c.122C>G (p.(Ala41Gly)) - CDK16_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.13-296A>G r.(=) p.(=) - likely benign g.47082655A>G - CDK16(NM_001170460.1):c.161A>G (p.N54S) - CDK16_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.13-279C>T r.(=) p.(=) - benign g.47082672C>T g.47223273C>T - - CDK16_000020 46 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17550472 Germline - 46/2794 individuals - 0 - Mohammed Faruq
-/. - c.13-279C>T r.(=) p.(=) - benign g.47082672C>T g.47223273C>T - - CDK16_000020 40 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17550472 Germline - 40/2794 individuals - 0 - Mohammed Faruq
-?/. - c.13-268A>T r.(=) p.(=) - likely benign g.47082683A>T g.47223284A>T CDK16(NM_001170460.1):c.189A>T (p.S63=) - CDK16_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.16G>A r.(?) p.(Ala6Thr) - likely benign g.47082954G>A g.47223555G>A CDK16(NM_033018.3):c.16G>A (p.A6T) - CDK16_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.469C>T r.(?) p.(Arg157Cys) - VUS g.47084131C>T g.47224732C>T CDK16(NM_033018.3):c.469C>T (p.R157C) - CDK16_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.535G>A r.(?) p.(Glu179Lys) - VUS g.47084287G>A - CDK16(NM_033018.3):c.535G>A (p.E179K) - CDK16_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.745C>T r.(?) p.(Leu249=) - likely benign g.47085263C>T g.47225864C>T CDK16(NM_001170460.1):c.949C>T (p.(=)), CDK16(NM_033018.3):c.745C>T (p.L249=) - CDK16_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.745C>T r.(?) p.(Leu249=) - likely benign g.47085263C>T g.47225864C>T CDK16(NM_001170460.1):c.949C>T (p.(=)), CDK16(NM_033018.3):c.745C>T (p.L249=) - CDK16_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.799C>T r.(?) p.(His267Tyr) - VUS g.47085415C>T g.47226016C>T CDK16(NM_001170460.1):c.1003C>T (p.(His335Tyr)) - CDK16_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.944G>A r.(?) p.(Arg315Gln) - VUS g.47085991G>A - CDK16(NM_033018.3):c.944G>A (p.R315Q) - CDK16_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.979G>T r.(?) p.(Glu327Ter) - VUS g.47086026G>T g.47226627G>T - - CDK16_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 10 c.994_995del r.(?) p.(Trp332Valfs*5) - likely pathogenic (recessive) g.47086041_47086042del g.47226642_47226643del Trp326Valfs*5 - CDK16_000014 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
?/. - c.996G>A r.(?) p.(Trp332Ter) - VUS g.47086043G>A - - - CDK16_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1093C>T r.(?) p.(Arg365Cys) - likely benign g.47086248C>T - CDK16(NM_001170460.1):c.1297C>T (p.(Arg433Cys)) - CDK16_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1173G>A r.(?) p.(Thr391=) - likely benign g.47086412G>A g.47227013G>A CDK16(NM_033018.3):c.1173G>A (p.T391=) - CDK16_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1213A>G r.(?) p.(Asn405Asp) - likely benign g.47086452A>G g.47227053A>G CDK16(NM_033018.3):c.1213A>G (p.N405D) - CDK16_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1272C>G r.(?) p.(Asp424Glu) - VUS g.47086592C>G g.47227193C>G CDK16(NM_033018.3):c.1272C>G (p.D424E) - CDK16_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1394-10C>T r.(=) p.(=) - likely benign g.47087956C>T - CDK16(NM_033018.3):c.1394-10C>T - USP11_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1460T>C r.(?) p.(Met487Thr) - likely benign g.47088032T>C g.47228633T>C CDK16(NM_001170460.1):c.1664T>C (p.(Met555Thr)) - USP11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1476G>A r.(?) p.(Arg492=) - likely benign g.47088134G>A g.47228735G>A CDK16(NM_033018.3):c.1476G>A (p.R492=) - USP11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.*495del r.(=) p.(=) - VUS g.47088662del g.47229263del - - CDK16_000001 - - - - Germline - - - - - Yu Sun
./. - c.*572dup r.(=) p.(=) - VUS g.47088739dup g.47229340dup - - CDK16_000003 - - - - Germline - - - - - Yu Sun
./. - c.*572_*573insGC r.(=) p.(=) - VUS g.47088739_47088740insGC g.47229340_47229341insGC - - CDK16_000002 - - - - Germline - - - - - Yu Sun
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