Unique variants in the APEX2 gene

Information The variants shown are described using the NM_014481.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.-2003G>T r.(?) p.(=) - VUS g.55024853G>T g.54998420G>T PFKFB1(NM_001271804.1):c.-4413C>A (p.(=)) - PFKFB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-1999T>C r.(?) p.(=) - VUS g.55024857T>C g.54998424T>C PFKFB1(NM_001271804.1):c.-4417A>G (p.(=)) - PFKFB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.177C>T r.(=) p.(=) - likely benign g.55027998C>T g.55001565C>T P59P - APEX2_000007 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.249C>T r.(=) p.(=) - likely benign g.55028691C>T g.55002258C>T A83A - APEX2_000008 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
?/. 1 - c.608G>A r.(?) p.(Arg203His) - VUS g.55030270G>A g.55003837G>A APEX2(NM_014481.3):c.608G>A (p.R203H) - APEX2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.968C>T r.(?) p.(Pro323Leu) - VUS g.55033279C>T g.55006846C>T - - APEX2_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.1022G>A r.(?) p.(Arg341His) - VUS g.55033333G>A g.55006900G>A APEX2(NM_014481.3):c.1022G>A (p.(Arg341His)) - APEX2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1038C>A r.(=) p.(=) - likely benign g.55033349C>A g.55006916C>A L346L - APEX2_000010 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - Lucy Raymond
?/. 1 - c.1194G>T r.(?) p.(Gln398His) - VUS g.55033505G>T - APEX2(NM_014481.3):c.1194G>T (p.Q398H) - ALAS2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1278T>C r.(=) p.(=) - likely benign g.55033589T>C g.55007156T>C T426T - APEX2_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1310A>T r.(?) p.(Lys437Met) - likely benign g.55033621A>T g.55007188A>T APEX2(NM_001271748.1):c.797A>T (p.(Lys266Met)) - ALAS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1408G>A r.(?) p.(Gly470Arg) - likely benign g.55033719G>A g.55007286G>A APEX2(NM_014481.3):c.1408G>A (p.G470R) - APEX2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*248C>T r.(=) p.(=) - VUS g.55034116C>T g.55007683C>T APEX2(NM_014481.3):c.*248C>T (p.(=)) - APEX2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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