Transcript #00001894

Transcript name ATP-binding cassette, sub-family G (WHITE), member 8
Gene name ABCG8 (ATP-binding cassette, sub-family G (WHITE), member 8)
Chromosome 2
Transcript - NCBI ID NM_022437.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_071882.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

207 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-1230C>T benign r.(?) p.(=)
+?/. - c.-1200A>G likely pathogenic r.(?) p.(=)
?/. - c.-1197A>G VUS r.(?) p.(=)
?/. - c.-1193G>T VUS r.(?) p.(=)
+?/. - c.-1190C>T likely pathogenic r.(?) p.(=)
-/. - c.-1174G>C benign r.(?) p.(=)
?/. - c.-1137C>T VUS r.(?) p.(=)
-/. - c.-1103G>A benign r.(?) p.(=)
?/. - c.-513C>A VUS r.(?) p.(=)
?/. - c.-513C>T VUS r.(?) p.(=)
?/. - c.-512G>T VUS r.(?) p.(=)
-?/. - c.-468C>T likely benign r.(?) p.(=)
-/. - c.-454C>G benign r.(?) p.(=)
-/. - c.-454C>G benign r.(?) p.(=)
-?/. - c.-452C>A likely benign r.(?) p.(=)
+/. - c.-438G>A pathogenic r.(?) p.(=)
-?/. - c.-411T>C likely benign r.(?) p.(=)
-?/. - c.-407C>A likely benign r.(?) p.(=)
-/. - c.-401G>A benign r.(?) p.(=)
-/. - c.-19T>G benign r.(?) p.(=)
-/. - c.-15A>C benign r.(?) p.(=)
?/. - c.-4C>T VUS r.(?) p.(=)
-?/. - c.29G>C likely benign r.(?) p.(Gly10Ala)
?/. - c.35C>T VUS r.(?) p.(Pro12Leu)
-/. - c.51C>A benign r.(?) p.(=)
?/. - c.51_63dup VUS r.(?) p.(Gly22Profs*9)
-/. - c.55G>C benign r.(?) p.(Asp19His)
-/. - c.55G>C benign r.(?) p.(Asp19His)
-?/. - c.64-21C>A likely benign r.(=) p.(=)
-/. - c.64-7C>T benign r.(=) p.(=)
-/. - c.64-7C>T benign r.(=) p.(=)
-/. - c.64G>A benign r.(?) p.(Gly22Ser)
-?/. - c.76A>G likely benign r.(?) p.(Arg26Gly)
-?/. - c.94A>G likely benign r.(?) p.(Ser32Gly)
+?/. - c.154C>G likely pathogenic r.(?) p.(Leu52Val)
-/. - c.161A>G benign r.(?) p.(Tyr54Cys)
-/. - c.161A>G benign r.(?) p.(Tyr54Cys)
+?/. - c.165+3A>G likely pathogenic r.spl? p.?
-/. - c.165+13C>T benign r.(=) p.(=)
-/. - c.166-718G>T benign r.(=) p.(=)
?/. - c.169G>C VUS r.(?) p.(Asp57His)
?/. - c.171C>A VUS r.(?) p.(Asp57Glu)
+?/. - c.220C>G likely pathogenic r.(?) p.(Pro74Ala)
-/. - c.239G>A benign r.(?) p.(Cys80Tyr)
-/. - c.239G>A benign r.(?) p.(Cys80Tyr)
?/. - c.270C>G VUS r.(?) p.(Asn90Lys)
-?/. - c.322+6G>A likely benign r.(=) p.(=)
-/. - c.322+431T>C benign r.(=) p.(=)
-/. - c.342G>A benign r.(?) p.(=)
-?/. - c.354C>T likely benign r.(?) p.(=)
+/. - c.361C>T pathogenic r.(?) p.(Arg121*)
-/. - c.369C>T benign r.(?) p.(=)
+?/. - c.370G>A likely pathogenic r.(?) p.(Gly124Ser)
-?/. - c.372C>T likely benign r.(?) p.(=)
-/. - c.379A>G benign r.(?) p.(Ile127Val)
-?/. - c.381C>T likely benign r.(?) p.(=)
-?/. - c.384G>A likely benign r.(?) p.(=)
?/. - c.406G>T VUS r.(?) p.(Gly136Trp)
+?/. - c.419C>T likely pathogenic r.(?) p.(Ser140Leu)
+/. - c.441T>A pathogenic r.(?) p.(Cys147*)
+/. - c.450C>A pathogenic r.(?) p.(His150Gln)
-?/. - c.450C>T likely benign r.(?) p.(=)
?/. - c.451G>A VUS r.(?) p.(Val151Met)
-/. - c.453G>A benign r.(?) p.(=)
?/. - c.491G>A VUS r.(?) p.(Arg164Gln)
?/. - c.550C>T VUS r.(?) p.(Arg184Cys)
-?/. - c.561+14C>T likely benign r.(=) p.(=)
-?/. - c.561+17A>C likely benign r.(=) p.(=)
-?/. - c.561+19T>C likely benign r.(=) p.(=)
?/. - c.562G>C VUS r.(?) p.(Val188Leu)
-/. - c.576C>T benign r.(?) p.(=)
?/. - c.578C>T VUS r.(?) p.(Ala193Val)
?/. - c.611G>A VUS r.(?) p.(Arg204His)
+?/. - c.619A>G likely pathogenic r.(?) p.(Asn207Asp)
-?/. - c.628G>A likely benign r.(?) p.(Val210Met)
-/. - c.628G>A benign r.(?) p.(Val210Met)
+?/. - c.632G>A likely pathogenic r.(?) p.(Arg211Gln)
?/. - c.641C>T VUS r.(?) p.(Ser214Leu)
-/. - c.675G>A benign r.(?) p.(=)
-/. - c.695-13_695-12del benign r.(=) p.(=)
-?/. - c.708C>T likely benign r.(?) p.(=)
+/. - c.712G>A pathogenic r.(?) p.(Glu238Lys)
+?/. - c.722C>T likely pathogenic r.(?) p.(Ser241Phe)
+?/. - c.730G>A likely pathogenic r.(?) p.(Asp244Asn)
?/. - c.734G>C VUS r.(?) p.(Ser245Thr)
+?/. - c.782G>T likely pathogenic r.(?) p.(Gly261Val)
+/. - c.788G>A pathogenic r.(?) p.(Arg263Gln)
-?/. - c.887C>T likely benign r.(?) p.(Ala296Val)
?/. - c.898A>G VUS r.(?) p.(Met300Val)
+?/. - c.927C>G likely pathogenic r.(?) p.(Tyr309*)
?/. - c.928C>G VUS r.(?) p.(Pro310Ala)
?/. - c.938G>A VUS r.(?) p.(Arg313His)
-?/. - c.965-19C>G likely benign r.(=) p.(=)
+/. - c.965-1G>C pathogenic r.spl? p.?
+?/. - c.965-1G>C likely pathogenic r.spl? p.?
?/. - c.989G>A VUS r.(?) p.(Arg330His)
?/. - c.1036G>A VUS r.(?) p.(Ala346Thr)
-?/. - c.1041C>A likely benign r.(?) p.(=)
?/. - c.1061G>T VUS r.(?) p.(Arg354Leu)
+/. - c.1083G>A pathogenic r.(?) p.(Trp361*)
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