Full data view for gene AKAP4

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

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.8C>T r.(?) p.(Ala3Val) Unknown - likely benign g.49965533G>A g.50200882G>A AKAP4(NM_003886.2):c.8C>T (p.A3V) - AKAP4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.175-4A>G r.spl? p.? Unknown - VUS g.49961647T>C g.50196996T>C AKAP4(NM_003886.2):c.175-4A>G (p.?) - AKAP4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.190A>T r.(?) p.(Ser64Cys) Unknown - likely benign g.49961628T>A g.50196977T>A AKAP4(NM_003886.2):c.190A>T (p.S64C) - AKAP4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.549A>G r.(?) p.(Lys183=) Unknown - likely benign g.49958815T>C g.50194164T>C AKAP4(NM_003886.2):c.549A>G (p.K183=) - AKAP4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.809T>C r.(?) p.(Ile270Thr) Unknown - VUS g.49958555A>G g.50193904A>G AKAP4(NM_003886.2):c.809T>C (p.(Ile270Thr)) - AKAP4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1407C>T r.(?) p.(Thr469=) Unknown - likely benign g.49957957G>A g.50193306G>A AKAP4(NM_003886.2):c.1407C>T (p.T469=) - AKAP4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1849C>G r.(?) p.(Gln617Glu) Unknown - likely benign g.49957515G>C g.50192864G>C AKAP4(NM_003886.2):c.1849C>G (p.Q617E) - AKAP4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1888G>A r.(?) p.(Val630Ile) Unknown - VUS g.49957476C>T g.50192825C>T AKAP4(NM_003886.2):c.1888G>A (p.(Val630Ile)) - AKAP4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1898T>G r.(?) p.(Leu633Arg) Unknown - benign g.49957466A>C g.50192815A>C AKAP4(NM_003886.2):c.1898T>G (p.L633R, p.(Leu633Arg)) - AKAP4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1898T>G r.(?) p.(Leu633Arg) Unknown - VUS g.49957466A>C g.50192815A>C AKAP4(NM_003886.2):c.1898T>G (p.L633R, p.(Leu633Arg)) - AKAP4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1947C>G r.(?) p.(Cys649Trp) Unknown - likely benign g.49957417G>C g.50192766G>C AKAP4(NM_003886.2):c.1947C>G (p.(Cys649Trp)) - AKAP4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2312A>C r.(?) p.(Gln771Pro) Parent #1 - VUS g.49957052T>G g.50192401T>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 r.(=) p.(=) Maternal (inferred) - VUS g.49956166C>G g.50191523= - - 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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