Unique variants in gene AKAP14

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.106T>C likely benign r.(?) p.(=) g.119037292T>C - AKAP14(NM_178813.5):c.106T>C (p.L36=) - AKAP14_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.262-5165_262-5164insA likely benign r.(?) p.(=) g.119043497_119043498insA - - - AKAP14_000004 - PubMed: Kumar 2016, Journal: Kumar 2016 - rs59646125 Germline - - - - - Thuong Ha
-?/., ?/. 2 5 c.386C>G likely benign r.(?) p.(Ala129Gly) g.119048786C>G - AKAP14(NM_178813.5):c.386C>G (p.(Ala129Gly)), A129G - AKAP14_000003 VKGL data sharing initiative Nederland, recurrent, found 3 times PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 3/208 cases - - - VKGL-NL, Lucy Raymond
?/. 2 - c.494+75C>T - - p.(=) g.119054001C>T g.119920038C>T - - AKAP14_000001 - - - - Germline - - - - - Yu Sun
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