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)     

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.106T>C r.(?) p.(Leu36=) - likely benign g.119037292T>C g.119903329T>C AKAP14(NM_178813.5):c.106T>C (p.L36=) - AKAP14_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.262-5165dup r.(=) p.(=) - likely benign g.119043497dup g.119909534dup - - AKAP14_000004 - PubMed: Kumar 2016, Journal: Kumar 2016 - rs59646125 Germline - - - - - Thuong Ha
?/. 1 5 c.386C>G r.(?) p.(Ala129Gly) - VUS g.119048786C>G g.119914823C>G A129G - AKAP14_000003 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
?/. 2 - c.494+75C>T r.(=) p.(=) - VUS g.119054001C>T g.119920038C>T - - AKAP14_000001 - - - - Germline - - - - - Yu Sun
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