Transcript #00023820

Transcript name transcript variant 2
Gene name TBC1D24 (TBC1 domain family, member 24)
Chromosome 16
Transcript - NCBI ID NM_020705.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_065756.1
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.-78G>A likely benign r.(=) p.(=)
-?/. - c.-7C>T likely benign r.(=) p.(=)
-?/. - c.22T>C likely benign r.(?) p.(Cys8Arg)
?/? 2 c.58C>T - r.(?) p.(Gln20*)
?/? 2 c.58C>T - r.(?) p.(Gln20*)
?/. - c.74A>G VUS r.(?) p.(Lys25Arg)
+?/. - c.116C>T - r.(?) p.(Ala39Val)
+?/. - c.116C>T - r.(?) p.(Ala39Val)
+?/. - c.116C>T - r.(?) p.(Ala39Val)
+?/. - c.116C>T - r.(?) p.(Ala39Val)
+?/. - c.116C>T - r.(?) p.(Ala39Val)
+?/. - c.116C>T - r.(?) p.(Ala39Val)
+?/. - c.116C>T - r.(?) p.(Ala39Val)
?/? 2 c.118C>T - r.(?) p.(Arg40Cys)
+?/. - c.119G>A - r.(?) p.(Arg40His)
+?/. - c.119G>A - r.(?) p.(Arg40His)
?/? 2 c.119G>T - r.(?) p.(Arg40Leu)
+?/. - c.139A>G - r.(?) p.(Ser47Gly)
+?/. - c.151C>T - r.(?) p.(Arg51Trp)
./. - c.169C>T - r.(?) p.(Arg57Cys)
./. - c.169C>T - r.(?) p.(Arg57Cys)
./. - c.169C>T - r.(?) p.(Arg57Cys)
./. - c.178C>T - r.(?) p.(Arg60Trp)
-?/. - c.192C>T likely benign r.(=) p.(=)
?/. - c.197C>T VUS r.(?) p.(Thr66Met)
-?/. - c.204G>A likely benign r.(=) p.(=)
-?/. - c.204G>A likely benign r.(=) p.(=)
-?/. - c.207T>C likely benign r.(=) p.(=)
?/? 2 c.208G>T - r.(?) p.(Asp70Tyr)
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del - r.(?) p.(Ile81_Lys84del)
-?/. - c.294C>A likely benign r.(?) p.(Asn98Lys)
./. - c.313T>C - r.(?) p.(Cys105Arg)
./. - c.325C>T - r.(?) p.(Arg109Cys)
?/? 2 c.328G>A - r.(?) p.(Gly110Ser)
./. - c.344G>T - r.(?) p.(Arg115Leu)
+?/. - c.404C>T - r.(?) p.(Pro135Leu)
+?/. - c.404C>T - r.(?) p.(Pro135Leu)
+?/. - c.431A>G - r.(?) p.(Tyr144Cys)
?/? 2 c.439G>C - r.(?) p.(Asp147His)
+?/. - c.442G>A - r.(?) p.(Glu148Lys)
+?/. - c.457G>T - r.(?) p.(Glu153*)
+?/? 2 c.533C>T likely pathogenic (dominant) r.(?) p.(Ser178Leu)
+/. - c.535dup pathogenic r.(?) p.(Ser179Phefs*52)
-?/. - c.546G>A likely benign r.(=) p.(=)
+?/. - c.619C>T - r.(?) p.(Gln207*)
?/. - c.622_639del VUS r.(?) p.(Val208_Gln213del)
./. - c.641G>A - r.(?) p.(Arg214His)
-?/. - c.641G>A likely benign r.(?) p.(Arg214His)
./. - c.641G>A - r.(?) p.(Arg214His)
./. - c.641G>A - r.(?) p.(Arg214His)
?/? 2 c.641G>A - r.(?) p.(Arg214His)
./. - c.641G>A - r.(?) p.(Arg214His)
-/. - c.641G>A benign r.(?) p.(Arg214His)
+?/. - c.679C>T - r.(?) p.(Arg227Trp)
-?/. - c.702G>A likely benign r.(=) p.(=)
?/? 2 c.724C>T - r.(?) p.(Arg242Cys)
?/? 2 c.724C>T - r.(?) p.(Arg242Cys)
?/? 2 c.724C>T - r.(?) p.(Arg242Cys)
?/? 2 c.724C>T - r.(?) p.(Arg242Cys)
?/? 2 c.724C>T - r.(?) p.(Arg242Cys)
?/? 2 c.724C>T - r.(?) p.(Arg242Cys)
?/? 2 c.724C>T - r.(?) p.(Arg242Cys)
+?/. - c.725G>A - r.(?) p.(Arg242His)
?/? 2 c.751T>C - r.(?) p.(Phe251Leu)
-?/. - c.821G>A likely benign r.(?) p.(Arg274Lys)
+?/. - c.866C>T - r.(?) p.(Ala289Val)
?/. - c.866C>T VUS r.(?) p.(Ala289Val)
?/? 2 c.878G>C - r.(?) p.(Arg293Pro)
-/. - c.885C>G benign r.(?) p.(Phe295Leu)
-?/. - c.885C>G likely benign r.(?) p.(Phe295Leu)
-?/. - c.885C>G likely benign r.(?) p.(Phe295Leu)
-?/. - c.965+7C>T likely benign r.(=) p.(=)
-?/. - c.965+40G>A likely benign r.(=) p.(=)
-?/. - c.966-436T>G likely benign r.(=) p.(=)
-?/. - c.966-416G>A likely benign r.(=) p.(=)
-/. - c.966-372C>T benign r.(=) p.(=)
?/? 3 c.981G>T - r.(?) p.(Leu327Phe)
-?/. - c.984C>T likely benign r.(=) p.(=)
-?/. - c.984C>T likely benign r.(=) p.(=)
+/. - c.990del pathogenic r.(?) p.(His330Glnfs*12)
?/. - c.990del VUS r.(?) p.(His330Glnfs*12)
?/? 3 c.990delT - r.(?) p.(His330Glnfs*12)
?/? 3 c.990delT - r.(?) p.(His330Glnfs*12)
?/. - c.1061G>A VUS r.(?) p.(Arg354His)
?/. - c.1061G>A VUS r.(?) p.(Arg354His)
?/. - c.1066G>A VUS r.(?) p.(Ala356Thr)
+?/. - c.1075C>T likely pathogenic r.(?) p.(Gln359*)
./. - c.1075C>T - r.(?) p.(Gln359*)
-/. - c.1125-6C>T benign r.(=) p.(=)
-/. - c.1125-6C>T benign r.(=) p.(=)
+?/. - c.1135C>T - r.(?) p.(Gln379*)
+?/. - c.1135C>T - r.(?) p.(Gln379*)
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