Transcript #00002706

Transcript name transcript variant 2
Gene name APOL1 (apolipoprotein L, 1)
Chromosome 22
Transcript - NCBI ID NM_145343.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_663318.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

29 entries on 1 page. Showing entries 1 - 29.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.29+69T>C benign r.(=) p.(=)
-/. - c.30-27G>A benign r.(=) p.(=)
-?/. - c.159C>T likely benign r.(?) p.(=)
./. - c.235+1G>A - r.spl? p.?
-/. - c.236-14T>G benign r.(=) p.(=)
-/. - c.334G>A benign r.(?) p.(Gly112Arg)
-/. - c.496G>A benign r.(?) p.(Glu166Lys)
-?/. - c.504G>A likely benign r.(?) p.(=)
-/. - c.520C>T benign r.(?) p.(Leu174Phe)
-/. - c.520C>T benign r.(?) p.(Leu174Phe)
-?/. - c.575A>G likely benign r.(?) p.(Asn192Ser)
-?/. - c.621C>T likely benign r.(?) p.(=)
-/. - c.702C>A benign r.(?) p.(=)
-/. - c.732G>A benign r.(?) p.(Met244Ile)
-/. - c.812G>A benign r.(?) p.(Arg271Lys)
-/. - c.840C>A benign r.(?) p.(Asn280Lys)
-/. - c.840C>A benign r.(?) p.(Asn280Lys)
-/. - c.857G>A benign r.(?) p.(Gly286Asp)
-?/. - c.885T>C likely benign r.(?) p.(=)
-?/. - c.899G>A likely benign r.(?) p.(Arg300His)
-?/. - c.899G>A likely benign r.(?) p.(Arg300His)
?/. - c.980C>T VUS r.(?) p.(Ser327Leu)
-?/. - c.993T>G likely benign r.(?) p.(=)
-/. - c.1008G>A benign r.(?) p.(=)
-/. - c.1057G>A benign r.(?) p.(Asp353Asn)
+?/. - c.1072A>G likely pathogenic r.(?) p.(Ser358Gly)
+?/. - c.1200T>G likely pathogenic r.(?) p.(Ile400Met)
+?/. - c.1212_1217del likely pathogenic r.(?) p.(Asn404_Tyr405del)
-?/. - c.1229C>G likely benign r.(?) p.(Ala410Gly)
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