Transcript #00001893

Transcript name ATP-binding cassette, sub-family G (WHITE), member 5
Gene name ABCG5 (ATP-binding cassette, sub-family G (WHITE), member 5)
Chromosome 2
Transcript - NCBI ID NM_022436.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_071881.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

132 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-437_-425dup VUS r.(?) p.(=)
-/. - c.-429C>G benign r.(?) p.(=)
-/. - c.-429C>G benign r.(?) p.(=)
-/. - c.-425G>T benign r.(?) p.(=)
?/. - c.-409G>A VUS r.(?) p.(=)
-?/. - c.-403C>G likely benign r.(?) p.(=)
?/. - c.-371G>A VUS r.(?) p.(=)
-/. - c.-360T>G benign r.(?) p.(=)
-/. - c.-356A>C benign r.(?) p.(=)
-/. - c.27C>T benign r.(?) p.(=)
-?/. - c.33G>T likely benign r.(?) p.(=)
-?/. - c.37A>G likely benign r.(?) p.(Met13Val)
+/. - c.64C>T pathogenic r.(?) p.(Gln22*)
-?/. - c.78G>T likely benign r.(?) p.(Glu26Asp)
-/. - c.80G>C benign r.(?) p.(Gly27Ala)
-/. - c.80G>C benign r.(?) p.(Gly27Ala)
-?/. - c.94G>A likely benign r.(?) p.(Ala32Thr)
?/. - c.138C>A VUS r.(?) p.(Ser46Arg)
?/. - c.139G>A VUS r.(?) p.(Val47Ile)
?/. - c.139G>T VUS r.(?) p.(Val47Phe)
-/. - c.148C>T benign r.(?) p.(Arg50Cys)
?/. - c.182G>A VUS r.(?) p.(Arg61Gln)
-/. - c.219C>G benign r.(?) p.(=)
+?/. - c.235G>A likely pathogenic r.(?) p.(Gly79Arg)
?/. - c.238C>A VUS r.(?) p.(Gln80Lys)
?/. - c.242T>C VUS r.(?) p.(Ile81Thr)
+?/. - c.245T>C likely pathogenic r.(?) p.(Met82Thr)
-/. - c.265+10G>A benign r.(=) p.(=)
+?/. - c.266-3C>A likely pathogenic r.spl? p.?
-/. - c.293C>G benign r.(?) p.(Ala98Gly)
?/. - c.388T>C VUS r.(?) p.(Ser130Pro)
+?/. - c.391T>C likely pathogenic r.(?) p.(Tyr131His)
+/. - c.392A>G pathogenic r.(?) p.(Tyr131Cys)
-?/. - c.402+20C>T likely benign r.(=) p.(=)
-?/. - c.403-19A>T likely benign r.(=) p.(=)
+/. - c.436G>C pathogenic r.(?) p.(Glu146Gln)
-?/. - c.442C>T likely benign r.(?) p.(=)
+?/. - c.495G>T likely pathogenic r.(?) p.(Gln165His)
-?/. - c.501+11C>A likely benign r.(=) p.(=)
-?/. - c.501+16del likely benign r.(=) p.(=)
-/. - c.501+16dup benign r.(=) p.(=)
-?/. - c.502-19del likely benign r.(=) p.(=)
+?/. - c.542C>T likely pathogenic r.(?) p.(Ala181Val)
+?/. - c.575dup likely pathogenic r.(?) p.(Ile193Hisfs*5)
+?/. - c.578T>G likely pathogenic r.(?) p.(Ile193Ser)
-/. - c.584C>G benign r.(?) p.(Thr195Arg)
?/. - c.593G>A VUS r.(?) p.(Arg198Gln)
+/. - c.598C>G pathogenic r.(?) p.(Arg200Gly)
+/. - c.688C>T pathogenic r.(?) p.(Gln230*)
+?/. - c.692T>C likely pathogenic r.(?) p.(Ile231Thr)
-?/. - c.696C>T likely benign r.(?) p.(=)
-?/. - c.696C>T likely benign r.(?) p.(=)
-/. - c.696C>T benign r.(?) p.(=)
-?/. - c.699C>A likely benign r.(?) p.(=)
?/. - c.718C>T VUS r.(?) p.(Arg240Cys)
-/. - c.719G>A benign r.(?) p.(Arg240His)
+?/. - c.731T>C likely pathogenic r.(?) p.(Ile244Thr)
?/. - c.758G>A VUS r.(?) p.(Arg253His)
-/. - c.774+215del benign r.(=) p.(=)
?/. - c.775-18C>G VUS r.(=) p.(=)
-?/. - c.775-18C>T likely benign r.(=) p.(=)
?/. - c.775-11T>G VUS r.(=) p.(=)
-?/. - c.775-10G>T likely benign r.(=) p.(=)
+?/. - c.775C>T likely pathogenic r.(?) p.(Leu259Phe)
?/. - c.785A>G VUS r.(?) p.(Lys262Arg)
-/. - c.785A>G benign r.(?) p.(Lys262Arg)
-?/. - c.804C>T likely benign r.(?) p.(=)
?/. - c.810G>C VUS r.(?) p.(Glu270Asp)
?/. - c.827C>T VUS r.(?) p.(Thr276Met)
?/. - c.833C>A VUS r.(?) p.(Ala278Glu)
?/. - c.862G>A VUS r.(?) p.(Gly288Ser)
?/. - c.862G>C VUS r.(?) p.(Gly288Arg)
-/. - c.897C>T benign r.(?) p.(=)
?/. - c.900C>G VUS r.(?) p.(Phe300Leu)
-?/. - c.915G>A likely benign r.(?) p.(=)
?/. - c.925A>G VUS r.(?) p.(Thr309Ala)
-?/. - c.1090G>A likely benign r.(?) p.(Val364Ile)
-?/. - c.1118+8G>A likely benign r.(=) p.(=)
-?/. - c.1118+13C>G likely benign r.(=) p.(=)
?/. - c.1153G>A VUS r.(?) p.(Ala385Thr)
+?/. - c.1166G>A likely pathogenic r.(?) p.(Arg389His)
?/. - c.1180C>A VUS r.(?) p.(Leu394Met)
+?/. - c.1187T>G likely pathogenic r.(?) p.(Met396Arg)
+?/. - c.1217G>A likely pathogenic r.(?) p.(Arg406Gln)
-/. - c.1218G>A benign r.(?) p.(=)
-?/. - c.1228A>C likely benign r.(?) p.(Asn410His)
-/. - c.1251G>A benign r.(?) p.(=)
+?/. - c.1255C>T likely pathogenic r.(?) p.(Arg419Cys)
-?/. - c.1284C>T likely benign r.(?) p.(=)
?/. - c.1285G>A VUS r.(?) p.(Ala429Thr)
?/. - c.1292C>T VUS r.(?) p.(Pro431Leu)
+?/. - c.1304T>G likely pathogenic r.(?) p.(Met435Arg)
-/. - c.1324+8C>T benign r.(=) p.(=)
+/. - c.1325-1G>T pathogenic r.spl? p.?
?/. - c.1330G>A VUS r.(?) p.(Val444Met)
+/. - c.1336C>T pathogenic r.(?) p.(Arg446*)
?/. - c.1358G>C VUS r.(?) p.(Ser453Thr)
-/. - c.1365C>T benign r.(?) p.(=)
+?/. - c.1366G>A likely pathogenic r.(?) p.(Gly456Ser)
+?/. - c.1383G>A likely pathogenic r.(?) p.(Trp461*)
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