Transcript #00021697

Transcript name tripeptidyl peptidase I
Gene name TPP1 (tripeptidyl peptidase I)
Chromosome 11
Transcript - NCBI ID NM_000391.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000382.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

941 entries on 10 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.? - r.? p.?
?/. - c.? - r.? p.?
?/. - c.? - r.? p.?
?/. - c.? - r.? p.?
?/. - c.? - r.? p.?
?/. - c.? - r.? p.?
?/. - c.-4894G>A VUS r.(?) p.(=)
-/. - c.-4891G>A benign r.(?) p.(=)
?/. - c.-4891G>A VUS r.(?) p.(=)
-?/. - c.-4891G>A likely benign r.(?) p.(=)
?/. - c.-4837C>T VUS r.(?) p.(=)
-?/. - c.-4828C>T likely benign r.(?) p.(=)
-?/. - c.-4828C>T likely benign r.(?) p.(=)
-?/. - c.-4738G>A likely benign r.(?) p.(=)
-/. - c.-4662T>G benign r.(?) p.(=)
-/. - c.-4578A>G benign r.(?) p.(=)
?/. - c.-4477C>T VUS r.(?) p.(=)
-/. - c.-4437G>A benign r.(?) p.(=)
?/. - c.-4090A>T VUS r.(?) p.(=)
?/. - c.-4090A>T VUS r.(?) p.(=)
-?/. - c.-4083C>T likely benign r.(?) p.(=)
-?/. - c.-4080C>T likely benign r.(?) p.(=)
-?/. - c.-4055C>G likely benign r.(?) p.(=)
-?/. - c.-4012G>A likely benign r.(?) p.(=)
?/. - c.-4010G>A VUS r.(?) p.(=)
-?/. - c.-4007G>A likely benign r.(?) p.(=)
-/. - c.-3969G>A benign r.(?) p.(=)
?/. - c.-3833G>A VUS r.(?) p.(=)
-?/. - c.-3833G>A likely benign r.(?) p.(=)
-/. - c.-3796G>C benign r.(?) p.(=)
-?/. - c.-3680G>A likely benign r.(?) p.(=)
-/. - c.-3677G>A benign r.(?) p.(=)
-?/. - c.-3677G>A likely benign r.(?) p.(=)
-/. - c.-3639C>T benign r.(?) p.(=)
-?/. - c.-3639C>T likely benign r.(?) p.(=)
-?/. - c.-3518G>A likely benign r.(?) p.(=)
?/. - c.-3518G>A VUS r.(?) p.(=)
?/. - c.-3503A>C VUS r.(?) p.(=)
?/. - c.-3500G>A VUS r.(?) p.(=)
?/. - c.-3428G>C VUS r.(?) p.(=)
?/. - c.-3392C>T VUS r.(?) p.(=)
?/. - c.-3392C>T VUS r.(?) p.(=)
-/. - c.-3345G>A benign r.(?) p.(=)
-?/. - c.-3304G>A likely benign r.(?) p.(=)
?/. - c.-3179C>T VUS r.(?) p.(=)
?/. - c.-3122C>T VUS r.(?) p.(=)
-/. - c.-3033C>T benign r.(?) p.(=)
?/. - c.-2981C>T VUS r.(?) p.(=)
?/. - c.-2945G>A VUS r.(?) p.(=)
?/. - c.-2911G>A VUS r.(?) p.(=)
?/. - c.-2871C>T VUS r.(?) p.(=)
-?/. - c.-2667C>G likely benign r.(?) p.(=)
?/. - c.-2479C>T VUS r.(?) p.(=)
-?/. - c.-2426G>A likely benign r.(?) p.(=)
-/. _1 c.-238T>C - - -
-/. _1 c.-150G>A - - -
-/. _1 c.-122T>C - - -
-/. _1 c.-103G>A - - -
+/. 4_7 c.(278_732?) - r.(278_732ins200) p.?
?/. 11 c.1278A>? - r.(?) p.(=)
-?/. - c.14C>A likely benign r.(?) p.(Ala5Asp)
?/. 1i c.17+1G>C - r.spl p.?
?/. 1i c.17+1G>C - r.spl p.?
?/. 1i c.17+1G>C - r.spl p.?
?/. 1i c.17+1G>C - r.spl p.?
?/. 1i c.18-3C>G - r.spl? p.?
?/. 2 c.37dup - r.(?) p.(Leu13Profs*32)
+?/. 2 c.38T>C likely pathogenic (recessive) r.(?) p.(Leu13Pro)
+/. 2i c.89+1G>A pathogenic (recessive) r.spl p.?
?/. 2i c.89+4A>G - r.spl? p.(?)
-?/. 2i c.89+4A>G likely benign r.spl? p.(?)
+/. 2i c.89+5G>C pathogenic (recessive) r.spl p.?
+/. 2i c.89+5G>C pathogenic (recessive) r.spl p.?
+/. 2i c.89+5G>C pathogenic (recessive) r.spl p.?
+?/. - c.89+5G>C likely pathogenic r.spl? p.?
?/. 2i c.89+5G>C - r.spl? p.(?)
?/. 2i c.89+5G>C - r.spl? p.(?)
?/. 2i c.89+5G>C - r.spl? p.(?)
?/. 2i c.89+5G>C - r.spl? p.(?)
?/. 2i c.89+5G>C - r.spl? p.(?)
-/. 2i c.90-44C>T - r.(?) p.(=)
?/. 2i c.90-44C>T - r.(?) p.(?)
?/. - c.119G>A VUS r.(?) p.(Arg40His)
-?/. - c.122C>T likely benign r.(?) p.(Ala41Val)
?/. 3 c.139C>G VUS r.(?) p.(Leu47Val)
?/. 3 c.177_180del - r.(?) p.fs
?/. - c.177_191del VUS r.(?) p.(Arg60_Leu64del)
-/. 3 c.184T>A - r.(?) p.(Ser62Thr)
?/. 3 c.184_185del - r.(?) p.(Ser62Glyfs*25)
-?/. - c.185C>T likely benign r.(?) p.(Ser62Leu)
?/. - c.194_196del VUS r.(?) p.(Val65_Gln66delinsGlu)
?/. 3 c.196C>T - r.(?) p.(Gln66*)
?/. 3 c.196C>T - r.(?) p.(Gln66*)
?/. 3 c.196C>T - r.(?) p.(Gln66*)
?/. 3 c.196C>T - r.(?) p.(Gln66*)
+/. 3 c.196C>T pathogenic (recessive) r.(?) p.(Gln66*)
+/. 3 c.196C>T pathogenic (recessive) r.(?) p.(Gln66*)
+/. 3 c.196C>T pathogenic (recessive) r.(?) p.(Gln66*)
-/. - c.213C>T benign r.(?) p.(=)
?/. 3 c.225A>G - r.spl? p.(=)
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