Unique variants in the APOOL gene

Information The variants shown are described using the NM_198450.5 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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 2 c.40G>T r.(?) p.(Ala14Ser) - VUS g.84301476G>T g.85046470G>T A14S - APOOL_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.62T>C r.(?) p.(Val21Ala) - likely benign g.84301498T>C - APOOL(NM_198450.5):c.62T>C (p.V21A) - APOOL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.295+145_295+148del r.(=) p.(=) - VUS g.84309549_84309552del g.85054543_85054546del - - APOOL_000004 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.326G>A r.(?) p.(Arg109Gln) - likely benign g.84310863G>A g.85055857G>A APOOL(NM_198450.5):c.326G>A (p.R109Q) - APOOL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.553A>G r.(?) p.(Lys185Glu) - likely benign g.84329070A>G g.85074064A>G APOOL(NM_198450.6):c.553A>G (p.K185E) - APOOL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.620T>C r.(?) p.(Ile207Thr) - likely benign g.84329299T>C g.85074293T>C APOOL(NM_198450.5):c.620T>C (p.I207T) - APOOL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*395_*396insTA r.(=) p.(=) - VUS g.84343079_84343080insTA g.85088073_85088074insTA - - APOOL_000005 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*1565A>G r.(=) p.(=) - VUS g.84344249A>G g.85089243A>G - - APOOL_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.*7250G>A r.(=) p.(=) - likely benign g.84349934G>A g.85094928G>A SATL1(NM_001012980.2):c.1762C>T (p.(Gln588Ter)) - SATL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*19717C>T r.(=) p.(=) - likely benign g.84362401C>T g.85107395C>T SATL1(NM_001012980.2):c.1574G>A (p.S525N) - SATL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*19807T>A r.(=) p.(=) - likely benign g.84362491T>A g.85107485T>A SATL1(NM_001012980.2):c.1484A>T (p.D495V) - SATL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*19826G>A r.(=) p.(=) - likely benign g.84362510G>A g.85107504G>A SATL1(NM_001012980.2):c.1465C>T (p.P489S) - SATL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*19946G>C r.(=) p.(=) - likely benign g.84362630G>C g.85107624G>C SATL1(NM_001012980.2):c.1345C>G (p.Q449E) - SATL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*20347C>T r.(=) p.(=) - likely benign g.84363031C>T g.85108025C>T SATL1(NM_001012980.2):c.944G>A (p.(Gly315Asp)) - APOOL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*20694_*20708del r.(=) p.(=) - likely benign g.84363378_84363392del g.85108372_85108386del SATL1(NM_001012980.2):c.592_606del (p.(Val198_Gly202del)) - SATL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*20903del r.(?) p.(=) - VUS g.84363587del - SATL1(NM_001367858.1):c.389delA (p.N130Tfs*5) - APOOL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*20904C>G r.(=) p.(=) - likely benign g.84363588C>G - SATL1(NM_001012980.2):c.387G>C (p.T129=) - SATL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*21032G>C r.(=) p.(=) - likely benign g.84363716G>C g.85108710G>C SATL1(NM_001012980.2):c.259C>G (p.(Pro87Ala)) - SATL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*21220G>A r.(=) p.(=) - VUS g.84363904G>A g.85108898G>A SATL1(NM_001012980.2):c.71C>T (p.(Thr24Ile)) - SATL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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