Transcript #00020186

Transcript name serine peptidase inhibitor, Kazal type 1
Gene name SPINK1 (serine peptidase inhibitor, Kazal type 1)
Chromosome 5
Transcript - NCBI ID NM_003122.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003113.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

20 entries on 1 page. Showing entries 1 - 20.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-22C>G - r.(=) p.(=)
-/. - c.36G>C benign r.(?) p.(Leu12Phe)
-/. - c.36G>C benign r.(?) p.(Leu12Phe)
-/. - c.88-23A>T - r.(=) p.(=)
?/. - c.101A>G VUS r.(?) p.(Asn34Ser)
+/. - c.101A>G - r.(=) p.(Asn34Ser)
?/. - c.101A>G VUS r.(?) p.(Asn34Ser)
?/. - c.101A>G VUS r.(?) p.(Asn34Ser)
+/. - c.116G>A - r.(=) p.(Cys39Tyr)
-/. - c.163C>T - r.(=) p.(Pro55Ser)
-?/. - c.163C>T likely benign r.(?) p.(Pro55Ser)
-?/. - c.163C>T likely benign r.(?) p.(Pro55Ser)
-/. - c.174C>T benign r.(?) p.(=)
+?/. - c.194G>A likely pathogenic r.(?) p.(Arg65Gln)
+?/. - c.194G>A likely pathogenic r.(?) p.(Arg65Gln)
+/. - c.194+2T>C pathogenic r.spl? p.?
+/. - c.194+2T>C pathogenic r.spl? p.?
-?/. - c.198A>C likely benign r.(?) p.(Lys66Asn)
?/. - c.200G>A VUS r.(?) p.(Arg67His)
?/. - c.200G>A VUS r.(?) p.(Arg67His)
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