Full data view for gene AKAP14

Information The variants shown are described using the NM_178813.5 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.106T>C likely benign r.(?) p.(=) Unknown g.119037292T>C - AKAP14(NM_178813.5):c.106T>C (p.L36=) - AKAP14_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.262-5165_262-5164insA likely benign r.(?) p.(=) Maternal (confirmed) g.119043497_119043498insA - - - AKAP14_000004 - PubMed: Kumar 2016, Journal: Kumar 2016 - rs59646125 Germline - - - 0 - DNA SEQ-NG ThuongHa - MRX;IDX - PubMed: Kumar 2016, Journal: Kumar 2016 6-generation family with mutliple affected M no Australia - - 0 - - 10 Thuong Ha
?/. 5 c.386C>G - r.(?) p.(Ala129Gly) Parent #1 g.119048786C>G - A129G - AKAP14_000003 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
-?/. - c.386C>G likely benign r.(?) p.(Ala129Gly) Unknown g.119048786C>G - AKAP14(NM_178813.5):c.386C>G (p.(Ala129Gly)) - AKAP14_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.494+75C>T - - p.(=) Maternal (inferred) g.119054001C>T g.119920038C>T - - AKAP14_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.494+75C>T - - p.(=) Maternal (inferred) g.119054001C>T g.119920038C>T - - AKAP14_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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