Unique variants in gene AKT1

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

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. 1 - c.46+19G>A likely benign r.(=) p.(=) g.105258916C>T - AKT1(NM_005163.2):c.46+19G>A - AKT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.47-21T>C benign r.(=) p.(=) g.105246574A>G - AKT1(NM_005163.2):c.47-21T>C - AKT1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.47-12G>A benign r.(=) p.(=) g.105246565C>T - AKT1(NM_005163.2):c.47-12G>A - AKT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.138C>A likely benign r.(?) p.(Asp46Glu) g.105246462G>T - AKT1(NM_001014432.1):c.138C>A (p.D46E) - AKT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.156C>T likely benign r.(?) p.(=) g.105246444G>A - AKT1(NM_005163.2):c.156C>T (p.L52=) - AKT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.175+18C>G likely benign r.(=) p.(=) g.105246407G>C - AKT1(NM_005163.2):c.175+18C>G - AKT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.175+18C>T benign r.(=) p.(=) g.105246407G>A - AKT1(NM_005163.2):c.175+18C>T - AKT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 1 - c.195G>C likely benign r.(?) p.(=) g.105243088C>G - AKT1(NM_005163.2):c.195G>C (p.T65=) - AKT1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.227G>A likely benign r.(?) p.(Arg76His) g.105243056C>T - AKT1(NM_001014431.1):c.227G>A (p.(Arg76His)) - AKT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.237G>A likely benign r.(?) p.(=) g.105243046C>T - AKT1(NM_005163.2):c.237G>A (p.Q79=) - AKT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.287+30A>G benign r.(=) p.(=) g.105242966T>C - AKT1(NM_005163.2):c.287+30A>G - AKT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.558C>T benign r.(?) p.(=) g.105241422G>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_Rotterdam, VKGL-NL_AMC
-/. 2 - c.567+14G>A benign r.(=) p.(=) g.105241399C>T - AKT1(NM_005163.2):c.567+14G>A - AKT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 3 - c.604C>T benign r.(?) p.(=) g.105241304G>A - AKT1(NM_005163.2):c.604C>T (p.L202=) - AKT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_VUmc
-/. 2 - c.726G>A benign r.(?) p.(=) g.105239894C>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 - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.751C>T VUS r.(?) p.(Arg251Cys) g.105239869G>A - AKT1(NM_005163.2):c.751C>T (p.R251C) - AKT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1020C>T likely benign r.(?) p.(=) g.105239367G>A - AKT1(NM_005163.2):c.1020C>T (p.Y340=) - AKT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1032C>T likely benign r.(?) p.(=) g.105239355G>A - AKT1(NM_001014432.1):c.1032C>T (p.C344=) - AKT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1100G>A VUS r.(?) p.(Arg367His) g.105239287C>T - AKT1(NM_005163.2):c.1100G>A (p.R367H) - AKT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1172+23A>G benign r.(=) p.(=) g.105239192T>C - AKT1(NM_005163.2):c.1172+23A>G - AKT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1179C>T benign r.(?) p.(=) g.105238783G>A - AKT1(NM_005163.2):c.1179C>T (p.G393=) - AKT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1189G>A likely benign r.(?) p.(Glu397Lys) g.105238773C>T - AKT1(NM_001014431.1):c.1188G>A (p.(Glu397Lys)) - AKT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 3 - c.1251C>T benign, likely benign r.(?) p.(=) g.105238711G>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 - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1363+9C>T likely benign r.(=) p.(=) g.105237073G>A - AKT1(NM_001014432.1):c.1363+9C>T - AKT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1394G>A VUS r.(?) p.(Arg465His) g.105236727C>T - AKT1(NM_005163.2):c.1394G>A (p.R465H) - AKT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*6C>T likely benign r.(=) p.(=) g.105236672G>A - AKT1(NM_005163.2):c.*6C>T - AKT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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