Full data view for gene AKAP4

Information The variants shown are described using the NM_003886.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

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VIP     

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Template     

Technique     

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Disease     

ID_report     

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Owner     
-?/. - c.8C>T likely benign r.(?) p.(Ala3Val) Unknown g.49965533G>A - AKAP4(NM_003886.2):c.8C>T (p.A3V) - AKAP4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.175-4A>G VUS r.spl? p.? Unknown g.49961647T>C - AKAP4(NM_003886.2):c.175-4A>G (p.?) - AKAP4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.190A>T likely benign r.(?) p.(Ser64Cys) Unknown g.49961628T>A - AKAP4(NM_003886.2):c.190A>T (p.S64C) - AKAP4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.809T>C VUS r.(?) p.(Ile270Thr) Unknown g.49958555A>G - AKAP4(NM_003886.2):c.809T>C (p.(Ile270Thr), p.(Ile261Thr)) - AKAP4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.887G>A likely benign r.(?) p.(Gly296Asp) Unknown g.49958477C>T - AKAP4(NM_003886.2):c.887G>A (p.(Gly296Asp), p.(Gly287Asp)) - AKAP4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1849C>G likely benign r.(?) p.(Gln617Glu) Unknown g.49957515G>C - AKAP4(NM_003886.2):c.1849C>G (p.Q617E) - AKAP4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1888G>A VUS r.(?) p.(Val630Ile) Unknown g.49957476C>T - AKAP4(NM_003886.2):c.1888G>A (p.(Val630Ile), p.(Val621Ile)) - AKAP4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1898T>G benign r.(?) p.(Leu633Arg) Unknown g.49957466A>C - AKAP4(NM_003886.2):c.1898T>G (p.(Leu633Arg), p.(Leu624Arg)) - AKAP4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1898T>G VUS r.(?) p.(Leu633Arg) Unknown g.49957466A>C - AKAP4(NM_003886.2):c.1898T>G (p.(Leu633Arg), p.(Leu624Arg)) - AKAP4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2312A>C - r.(?) p.(Gln771Pro) Parent #1 g.49957052T>G - - - AKAP4_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.2410-408G>C - - p.(=) Maternal (inferred) g.49956166C>G g.50191523C>G - - AKAP4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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