Transcript #00016957

Transcript name protease, serine, 1 (trypsin 1)
Gene name PRSS1 (protease, serine, 1 (trypsin 1))
Chromosome 7
Transcript - NCBI ID NM_002769.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_002760.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

93 entries on 1 page. Showing entries 1 - 93.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.8C>T likely benign r.(?) p.(Pro3Leu)
-?/. - c.8C>T likely benign r.(?) p.(Pro3Leu)
-/. - c.12C>T benign r.(?) p.(=)
-?/. - c.23C>T likely benign r.(?) p.(Thr8Ile)
-/. - c.30G>T benign r.(?) p.(=)
-?/. - c.40C>G likely benign r.(?) p.(Leu14Val)
-/. - c.40C>G benign r.(?) p.(Leu14Val)
-?/. - c.40+7A>T likely benign r.(=) p.(=)
-?/. - c.40+7A>T likely benign r.(=) p.(=)
-/. - c.40+7A>T benign r.(=) p.(=)
-/. - c.40+11T>C benign r.(=) p.(=)
-?/. - c.44C>G likely benign r.(?) p.(Ala15Gly)
-/. - c.49C>T benign r.(?) p.(Pro17Ser)
-?/. - c.49C>T likely benign r.(?) p.(Pro17Ser)
+/. - c.86A>C - r.(?) p.(Asn29Thr)
+/. - c.86A>T - r.(?) p.(Asn29Ile)
-/. - c.86A>T benign r.(?) p.(Asn29Ile)
-?/. - c.121C>T likely benign r.(?) p.(=)
-?/. - c.144T>C likely benign r.(?) p.(=)
?/. - c.146G>T VUS r.(?) p.(Gly49Val)
-?/. - c.146G>T likely benign r.(?) p.(Gly49Val)
-/. - c.146G>T benign r.(?) p.(Gly49Val)
-?/. - c.158T>A likely benign r.(?) p.(Ile53Asn)
-/. - c.158T>A benign r.(?) p.(Ile53Asn)
-/. - c.161A>G benign r.(?) p.(Asn54Ser)
-?/. - c.161A>G likely benign r.(?) p.(Asn54Ser)
-?/. - c.162C>G likely benign r.(?) p.(Asn54Lys)
-/. - c.162C>G benign r.(?) p.(Asn54Lys)
-?/. - c.166C>T likely benign r.(?) p.(Gln56*)
-/. - c.166C>T benign r.(?) p.(Gln56*)
-?/. - c.177A>G likely benign r.(?) p.(=)
-/. - c.177A>G benign r.(?) p.(=)
-?/. - c.185G>C likely benign r.(?) p.(Gly62Ala)
-/. - c.185G>C benign r.(?) p.(Gly62Ala)
-?/. - c.186C>T likely benign r.(?) p.(=)
-/. - c.186C>T benign r.(?) p.(=)
-?/. - c.200+1G>A likely benign r.spl? p.?
-/. - c.200+1G>A benign r.spl? p.?
-/. - c.200+44C>G - r.(=) p.(=)
-/. - c.200+45T>G - r.(=) p.(=)
-/. - c.200+402A>T benign r.(=) p.(=)
-/. - c.200+407T>C benign r.(=) p.(=)
-/. - c.202C>T benign r.(?) p.(Arg68Cys)
-?/. - c.234C>T likely benign r.(?) p.(=)
+/. - c.364C>T - r.(?) p.(Arg122Cys)
+?/. - c.364C>T likely pathogenic r.(?) p.(Arg122Cys)
+/. - c.365G>A - r.(?) p.(Arg122His)
+?/. - c.365G>A likely pathogenic r.(?) p.(Arg122His)
+?/. - c.365G>A likely pathogenic r.(?) p.(Arg122His)
-?/. - c.400G>A likely benign r.(?) p.(Ala134Thr)
-?/. - c.447C>T likely benign r.(?) p.(=)
-?/. - c.454+16A>T likely benign r.(=) p.(=)
-?/. - c.457G>C likely benign r.(?) p.(Asp153His)
-/. - c.468C>T benign r.(?) p.(=)
-/. - c.486T>C benign r.(?) p.(=)
-/. - c.486T>C benign r.(?) p.(=)
-/. - c.486T>C benign r.(?) p.(=)
-/. - c.508A>G benign r.(?) p.(Lys170Glu)
?/. - c.508A>G VUS r.(?) p.(Lys170Glu)
?/. - c.508A>G VUS r.(?) p.(Lys170Glu)
-?/. - c.512G>A likely benign r.(?) p.(Cys171Tyr)
-/. - c.512G>A benign r.(?) p.(Cys171Tyr)
-/. - c.542G>A benign r.(?) p.(Ser181Asn)
-/. - c.542G>A benign r.(?) p.(Ser181Asn)
-/. - c.547A>G benign r.(?) p.(Met183Val)
-?/. - c.547A>G likely benign r.(?) p.(Met183Val)
-?/. - c.552C>T likely benign r.(?) p.(=)
-?/. - c.552C>T likely benign r.(?) p.(=)
-?/. - c.561C>T likely benign r.(?) p.(=)
-?/. - c.561C>T likely benign r.(?) p.(=)
-/. - c.561C>T benign r.(?) p.(=)
-?/. - c.571G>A likely benign r.(?) p.(Gly191Arg)
?/. - c.571G>A VUS r.(?) p.(Gly191Arg)
?/. - c.592-24C>T - r.(=) p.(=)
-/. - c.592-11C>T - r.(=) p.(=)
-?/. - c.592-11C>T likely benign r.(=) p.(=)
-?/. - c.592-9T>C likely benign r.(=) p.(=)
-?/. - c.592-8C>T likely benign r.(=) p.(=)
-?/. - c.592-8C>T likely benign r.(=) p.(=)
-/. - c.625C>G benign r.(?) p.(Gln209Glu)
-?/. - c.637G>A likely benign r.(?) p.(Val213Ile)
-/. - c.637G>A benign r.(?) p.(Val213Ile)
-?/. - c.651T>C likely benign r.(?) p.(=)
-?/. - c.651T>C likely benign r.(?) p.(=)
-/. - c.651T>C benign r.(?) p.(=)
-?/. - c.652G>T likely benign r.(?) p.(Asp218Tyr)
-/. - c.652G>T benign r.(?) p.(Asp218Tyr)
-?/. - c.654T>C likely benign r.(?) p.(=)
-?/. - c.674A>G likely benign r.(?) p.(Lys225Arg)
-/. - c.674A>G benign r.(?) p.(Lys225Arg)
-?/. - c.674A>G likely benign r.(?) p.(Lys225Arg)
-/. - c.738T>C benign r.(?) p.(=)
-/. - c.738T>C benign r.(?) p.(=)
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