Unique variants in the AKT2 gene

Information The variants shown are described using the NM_001626.4 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

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     
-/., -?/. 2 - c.93C>T r.(?) p.(Ser31=) - benign, likely benign g.40762915G>A g.40257008G>A AKT2(NM_001626.5):c.93C>T (p.S31=), AKT2(NM_001626.6):c.93C>T (p.S31=) - AKT2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.148C>A r.(?) p.(Pro50Thr) - likely benign g.40762860G>T g.40256953G>T AKT2(NM_001626.5):c.148C>A (p.P50T) - AKT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.365A>G r.(?) p.(Tyr122Cys) - likely benign g.40748517T>C - AKT2(NM_001626.4):c.365A>G (p.(Tyr122Cys)) - AKT2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.711G>C r.(?) p.(Leu237=) - likely benign g.40743996C>G g.40238089C>G AKT2(NM_001243027.1):c.525G>C (p.(=)) - AKT2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.960+3G>A r.spl? p.? - likely benign g.40742161C>T g.40236254C>T AKT2(NM_001626.5):c.960+3G>A - AKT2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1110G>T r.(?) p.(Pro370=) - likely benign g.40741862C>A g.40235955C>A AKT2(NM_001626.5):c.1110G>T (p.P370=) - AKT2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*266T>C r.(=) p.(=) - benign g.40739513A>G g.40233606A>G AKT2(NM_001626.6):c.*266T>C - AKT2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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