Transcript #00000574

Transcript name transcript variant 4
Gene name PQBP1 (polyglutamine binding protein 1)
Chromosome X
Transcript - NCBI ID NM_001032383.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001027555.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

43 entries on 1 page. Showing entries 1 - 43.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-4376T>C likely benign r.(?) p.(=)
-?/. - c.-3023G>A likely benign r.(?) p.(=)
-?/. - c.-2691C>A likely benign r.(?) p.(=)
-?/. - c.-19+4G>A likely benign r.spl? p.?
-?/. - c.-19+4G>A likely benign r.spl? p.?
?/. - c.19C>G - r.(?) p.(Leu7Val)
?/. - c.67+204_67+208del - - p.(=)
?/. - c.179+182_179+183del - - p.(=)
?/. - c.179+182_179+183del - - p.(=)
?/. - c.179+188_179+189del - - p.(=)
?/. - c.179+188_179+189del - - p.(=)
-/. - c.180-3C>T benign r.spl? p.?
?/. - c.180-3C>T - - p.(=)
?/. - c.180-3C>T - - p.(=)
-?/. - c.250G>A likely benign r.(?) p.(Val84Met)
?/. - c.334_354del - r.(?) p.(Gly113_Arg119del)
-?/. - c.341A>G likely benign r.(?) p.(His114Arg)
-?/. - c.397C>T likely benign r.(?) p.(Arg133Trp)
?/. - c.430C>T VUS r.(?) p.(Arg144Cys)
+/. - c.450_453del pathogenic r.(?) p.(Asp150Glufs*44)
./. - c.450_454delinsC - r.(?) p.(Arg153Serfs*40)
+/. - c.459_462del pathogenic r.(?) p.(Arg153Serfs*41)
+/. - c.459_462del pathogenic r.(?) p.(Arg153Serfs*41)
+/. 5 c.459_462del ACMG: 5 r.(?) p.(Arg153Serfs*41)
-?/. - c.585C>T likely benign r.(?) p.(=)
+/. - c.586C>T pathogenic r.(?) p.(Arg196*)
./. - c.586C>T - r.(?) p.(Arg196*)
./. - c.719del - r.(?) p.(Phe240Serfs*36)
-?/. - c.*1628C>T likely benign r.(=) p.(=)
-?/. - c.*1696G>A likely benign r.(=) p.(=)
-?/. - c.*1747C>T likely benign r.(=) p.(=)
-?/. - c.*1763G>A likely benign r.(=) p.(=)
?/. - c.*1818T>C VUS r.(=) p.(=)
?/. - c.*1884C>A VUS r.(=) p.(=)
+?/. - c.*1981C>T likely pathogenic r.(=) p.(=)
+/. - c.*2007C>T pathogenic r.(=) p.(=)
+/. - c.*2073del pathogenic r.(?) p.(=)
?/. - c.*2209C>T VUS r.(=) p.(=)
-?/. - c.*2210G>A likely benign r.(=) p.(=)
?/. - c.*2317C>G VUS r.(=) p.(=)
?/. - c.*2328C>T VUS r.(=) p.(=)
-?/. - c.*3384A>G likely benign r.(=) p.(=)
?/. - c.*3464G>A VUS r.(=) p.(=)
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