All transcript variants in gene APOL1

Information The variants shown are described using the NM_145343.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

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     
-/. - c.29+69T>C benign r.(=) p.(=) g.36650106T>C - APOL1:c.29+69T>C - APOL1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.30-27G>A benign r.(=) p.(=) g.36650956G>A - APOL1:c.-46G>A - APOL1_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.159C>T likely benign r.(=) p.(=) g.36653377C>T - APOL1:c.159C>T (N53=) - APOL1_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.235+1G>A - r.spl? p.? g.36653454G>A g.36257408G>A NM_003661.3(APOL1):c.187+1G>A r.spl p.? - APOL1_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg
-/. - c.236-14T>G benign r.(=) p.(=) g.36657628T>G - APOL1:c.236-14T>G - APOL1_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.334G>A benign r.(?) p.(Gly112Arg) g.36657740G>A - APOL1:c.334G>A (G112R) - APOL1_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.496G>A benign r.(?) p.(Glu166Lys) g.36661330G>A - APOL1:c.496G>A (E166K) - APOL1_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.575A>G likely benign r.(?) p.(Asn192Ser) g.36661409A>G - APOL1:c.575A>G (N192S) - APOL1_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.702C>A benign r.(=) p.(=) g.36661536C>A - APOL1:c.702C>A (=) - APOL1_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.732G>A benign r.(?) p.(Met244Ile) g.36661566G>A - APOL1:c.732G>A (M244I) - APOL1_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.812G>A benign r.(?) p.(Arg271Lys) g.36661646G>A - APOL1:c.812G>A (R271K) - APOL1_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.885T>C likely benign r.(=) p.(=) g.36661719T>C - APOL1:c.885T>C (I295=) - APOL1_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.980C>T VUS r.(?) p.(Ser327Leu) g.36661814C>T - APOL1:c.980C>T (S327L) - APOL1_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1008G>A benign r.(=) p.(=) g.36661842G>A - APOL1:c.1008G>A (=) - APOL1_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1057G>A benign r.(?) p.(Asp353Asn) g.36661891G>A - APOL1:c.1057G>A (D353N) - APOL1_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.1072A>G likely pathogenic r.(?) p.(Ser358Gly) g.36661906A>G - APOL1:c.1072A>G (S358G) - APOL1_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.1200T>G likely pathogenic r.(?) p.(Ile400Met) g.36662034T>G - APOL1:c.1200T>G (I400M) - APOL1_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.1208_1213del likely pathogenic r.(?) p.(Asn404_Tyr405del) g.36662042_36662047del - APOL1:c.1212_1217delTTATAA (N404_Y405del) - APOL1_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1229C>G likely benign r.(?) p.(Ala410Gly) g.36662063C>G - APOL1:c.1229C>G (A410G) - APOL1_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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