Unique variants in the AKAP17A gene

Information The variants shown are described using the NM_005088.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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     
?/. 1 - c.9G>A r.(=) p.(=) - VUS g.1712364G>A - A3A - AKAP17A_000001 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - Lucy Raymond
?/. 1 - c.255C>T r.(=) p.(=) - VUS g.1712610C>T - N85N - AKAP17A_000002 recurrent, found 7 times PubMed: Tarpey 2009 - - Germline - 7/208 cases - - - Lucy Raymond
?/. 1 - c.256A>G r.(?) p.(Lys86Glu) - VUS g.1712611A>G - - - AKAP17A_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.310A>G r.(?) p.(Ser104Gly) - VUS g.1712665A>G - - - AKAP17A_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.386C>T r.(?) p.(Ser129Phe) - VUS g.1712741C>T - - - AKAP17A_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.569C>T r.(?) p.(Pro190Leu) - VUS g.1712924C>T - - - AKAP17A_000006 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
?/. 1 - c.585C>T r.(=) p.(=) - VUS g.1712940C>T - Y195Y - AKAP17A_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.666C>T r.(=) p.(=) - VUS g.1713021C>T - R222R - AKAP17A_000008 recurrent, found 68 times PubMed: Tarpey 2009 - - Germline - 68/208 cases - - - Lucy Raymond
-?/., ?/. 2 - c.705C>T r.(=), r.(?) p.(=), p.(Arg235=) - likely benign, VUS g.1713060C>T - AKAP17A(NM_005088.2):c.705C>T (p.R235=), R235R - AKAP17A_000009 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
-?/. 1 - c.921G>C r.(?) p.(Lys307Asn) - likely benign g.1718094G>C - AKAP17A(NM_005088.2):c.921G>C (p.K307N) - AKAP17A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.989G>C r.(?) p.(Arg330Thr) - VUS g.1718162G>C - AKAP17A(NM_005088.2):c.989G>C (p.R330T) - AKAP17A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1340C>T r.(?) p.(Pro447Leu) - likely benign g.1719739C>T - AKAP17A(NM_005088.2):c.1340C>T (p.P447L) - AKAP17A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1350C>A r.(?) p.(Ser450Arg) - likely benign g.1719749C>A - AKAP17A(NM_005088.2):c.1350C>A (p.S450R) - AKAP17A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1448C>T r.(?) p.(Thr483Met) - VUS g.1719847C>T - AKAP17A(NM_005088.2):c.1448C>T (p.T483M) - AKAP17A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1479C>T r.(?) p.(Ala493=) - likely benign g.1719878C>T - AKAP17A(NM_005088.2):c.1479C>T (p.A493=) - AKAP17A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1498C>G r.(?) p.(Pro500Ala) - VUS g.1719897C>G - - - AKAP17A_000010 recurrent, found 34 times PubMed: Tarpey 2009 - - Germline - 34/208 cases - - - Lucy Raymond
-?/. 1 - c.1551C>T r.(?) p.(Ala517=) - likely benign g.1719950C>T - AKAP17A(NM_005088.2):c.1551C>T (p.A517=) - AKAP17A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1600G>A r.(?) p.(Glu534Lys) - likely benign g.1719999G>A - AKAP17A(NM_005088.2):c.1600G>A (p.E534K) - AKAP17A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1776A>G r.(?) p.(Gly592=) - likely benign g.1720175A>G - AKAP17A(NM_005088.2):c.1776A>G (p.G592=) - AKAP17A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1923G>A r.(=) p.(=) - VUS g.1720322G>A - P641P - AKAP17A_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1999G>A r.(?) p.(Ala667Thr) - likely benign g.1720398G>A - AKAP17A(NM_005088.2):c.1999G>A (p.A667T) - AKAP17A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2023C>T r.(?) p.(Arg675Cys) - VUS g.1720422C>T - - - AKAP17A_000012 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - Lucy Raymond
-?/. 1 - c.2030G>A r.(?) p.(Arg677Gln) - likely benign g.1720429G>A - AKAP17A(NM_005088.2):c.2030G>A (p.R677Q) - AKAP17A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*21562C>T r.(=) p.(=) - likely benign g.1742049C>T - ASMT(NM_004043.2):c.87C>T (p.C29=) - AKAP17A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*21611G>T r.(=) p.(=) - likely benign g.1742098G>T - ASMT(NM_004043.2):c.136G>T (p.V46L) - AKAP17A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*31177C>T r.(=) p.(=) - likely benign g.1751664C>T - ASMT(NM_004043.2):c.630C>T (p.R210=) - AKAP17A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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