All transcript variants in gene AKT1

Information The variants shown are described using the NM_005163.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.46+19G>A r.(=) p.(=) - likely benign g.105258916C>T g.104792579C>T AKT1(NM_005163.2):c.46+19G>A - AKT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.47-21T>C r.(=) p.(=) - benign g.105246574A>G g.104780237A>G AKT1(NM_005163.2):c.47-21T>C - AKT1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.47-12G>A r.(=) p.(=) - benign g.105246565C>T g.104780228C>T AKT1(NM_005163.2):c.47-12G>A - AKT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.138C>A r.(?) p.(Asp46Glu) - likely benign g.105246462G>T g.104780125G>T AKT1(NM_001014432.1):c.138C>A (p.D46E) - AKT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.156C>T r.(?) p.(Leu52=) - likely benign g.105246444G>A g.104780107G>A AKT1(NM_005163.2):c.156C>T (p.L52=) - AKT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.175+18C>G r.(=) p.(=) - likely benign g.105246407G>C g.104780070G>C AKT1(NM_005163.2):c.175+18C>G - AKT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.175+18C>T r.(=) p.(=) - benign g.105246407G>A g.104780070G>A AKT1(NM_005163.2):c.175+18C>T - AKT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.175+18C>T r.(=) p.(=) - benign g.105246407G>A g.104780070G>A AKT1(NM_005163.2):c.175+18C>T - AKT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.195G>C r.(?) p.(Thr65=) - likely benign g.105243088C>G g.104776751C>G AKT1(NM_005163.2):c.195G>C (p.T65=) - AKT1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.200G>A r.(?) p.(Arg67Gln) - VUS g.105243083C>T g.104776746C>T AKT1(NM_001014431.1):c.200G>A (p.(Arg67Gln)) - AKT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.227G>A r.(?) p.(Arg76His) - likely benign g.105243056C>T g.104776719C>T AKT1(NM_001014431.1):c.227G>A (p.(Arg76His)) - AKT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.237G>A r.(?) p.(Gln79=) - likely benign g.105243046C>T g.104776709C>T AKT1(NM_005163.2):c.237G>A (p.Q79=) - AKT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.287+30A>G r.(=) p.(=) - benign g.105242966T>C g.104776629T>C AKT1(NM_005163.2):c.287+30A>G - AKT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.288-14C>T r.(=) p.(=) - - g.105242150G>A - AKT1(NM_005163.2):c.288-14C>T - chr14_003965 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.558C>T r.(?) p.(Ile186=) - benign g.105241422G>A g.104775085G>A AKT1(NM_001014431.2):c.558C>T (p.I186=), AKT1(NM_005163.2):c.558C>T (p.I186=) - AKT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.558C>T r.(?) p.(Ile186=) - benign g.105241422G>A g.104775085G>A AKT1(NM_001014431.2):c.558C>T (p.I186=), AKT1(NM_005163.2):c.558C>T (p.I186=) - AKT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.567+14G>A r.(=) p.(=) - benign g.105241399C>T g.104775062C>T AKT1(NM_005163.2):c.567+14G>A - AKT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.567+14G>A r.(=) p.(=) - benign g.105241399C>T g.104775062C>T AKT1(NM_005163.2):c.567+14G>A - AKT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.604C>T r.(?) p.(Leu202=) - benign g.105241304G>A g.104774967G>A AKT1(NM_005163.2):c.604C>T (p.L202=) - AKT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.604C>T r.(?) p.(Leu202=) - benign g.105241304G>A g.104774967G>A AKT1(NM_005163.2):c.604C>T (p.L202=) - AKT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.604C>T r.(?) p.(Leu202=) - benign g.105241304G>A g.104774967G>A AKT1(NM_005163.2):c.604C>T (p.L202=) - AKT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.726G>A r.(?) p.(Glu242=) - benign g.105239894C>T g.104773557C>T AKT1(NM_001014431.2):c.726G>A (p.E242=), AKT1(NM_005163.2):c.726G>A (p.E242=) - AKT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.726G>A r.(?) p.(Glu242=) - benign g.105239894C>T g.104773557C>T AKT1(NM_001014431.2):c.726G>A (p.E242=), AKT1(NM_005163.2):c.726G>A (p.E242=) - AKT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.751C>T r.(?) p.(Arg251Cys) - VUS g.105239869G>A g.104773532G>A AKT1(NM_005163.2):c.751C>T (p.R251C) - AKT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.828+4C>T r.spl? p.? - - g.105239788G>A - AKT1(NM_001014432.1):c.828+4C>T - chr14_003964 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1020C>T r.(?) p.(Tyr340=) - likely benign g.105239367G>A g.104773030G>A AKT1(NM_005163.2):c.1020C>T (p.Y340=) - AKT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1032C>T r.(?) p.(Cys344=) - likely benign g.105239355G>A g.104773018G>A AKT1(NM_001014432.1):c.1032C>T (p.C344=) - AKT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1100G>A r.(?) p.(Arg367His) - VUS g.105239287C>T g.104772950C>T AKT1(NM_005163.2):c.1100G>A (p.R367H) - AKT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1172+23A>G r.(=) p.(=) - benign g.105239192T>C g.104772855T>C AKT1(NM_005163.2):c.1172+23A>G - AKT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1179C>T r.(?) p.(Gly393=) - benign g.105238783G>A g.104772446G>A AKT1(NM_005163.2):c.1179C>T (p.G393=) - AKT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1189G>A r.(?) p.(Glu397Lys) - likely benign g.105238773C>T g.104772436C>T AKT1(NM_001014431.1):c.1188G>A (p.(Glu397Lys)) - AKT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1194C>T r.(?) p.(Asp398=) - likely benign g.105238768G>A g.104772431G>A AKT1(NM_001014432.1):c.1194C>T (p.D398=) - AKT1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1251C>T r.(?) p.(Tyr417=) - benign g.105238711G>A g.104772374G>A AKT1(NM_001014431.2):c.1251C>T (p.Y417=), AKT1(NM_005163.2):c.1251C>T (p.Y417=) - AKT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1251C>T r.(?) p.(Tyr417=) - benign g.105238711G>A g.104772374G>A AKT1(NM_001014431.2):c.1251C>T (p.Y417=), AKT1(NM_005163.2):c.1251C>T (p.Y417=) - AKT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1251C>T r.(?) p.(Tyr417=) - likely benign g.105238711G>A g.104772374G>A AKT1(NM_001014431.2):c.1251C>T (p.Y417=), AKT1(NM_005163.2):c.1251C>T (p.Y417=) - AKT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1363+9C>T r.(=) p.(=) - likely benign g.105237073G>A g.104770736G>A AKT1(NM_001014432.1):c.1363+9C>T, AKT1(NM_005163.2):c.1363+9C>T - AKT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1363+9C>T r.(=) p.(=) - - g.105237073G>A - AKT1(NM_001014432.1):c.1363+9C>T, AKT1(NM_005163.2):c.1363+9C>T - AKT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1393C>T r.(?) p.(Arg465Cys) - VUS g.105236728G>A g.104770391G>A AKT1(NM_001014432.1):c.1393C>T (p.R465C) - AKT1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1394G>A r.(?) p.(Arg465His) - VUS g.105236727C>T g.104770390C>T AKT1(NM_005163.2):c.1394G>A (p.R465H) - AKT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*6C>T r.(=) p.(=) - likely benign g.105236672G>A g.104770335G>A AKT1(NM_005163.2):c.*6C>T - AKT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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