Unique variants in gene SPINK1

Information The variants shown are described using the NM_003122.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.-22C>G - r.(=) p.(=) g.147211162G>C g.147831599G>C - - SPINK1_000004 - - - - Germline - - - - - Andreas Laner
-/. 2 - c.36G>C benign r.(?) p.(Leu12Phe) g.147211105C>G - SPINK1(NM_003122.4):c.36G>C (p.L12F) - SPINK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/. 1 - c.88-23A>T - r.(=) p.(=) g.147207714T>A g.147828151T>A - - SPINK1_000003 in a patient in combination with PRSS1 pathogenic mutation p.Arg122His - - - Germline - - - - - Andreas Laner
?/., +/. 4 - c.101A>G VUS r.(?), r.(=) p.(Asn34Ser) g.147207678T>C g.147828115T>C SPINK1(NM_003122.4):c.101A>G (p.N34S) - SPINK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_VUmc, Andreas Laner, VKGL-NL_Nijmegen, VKGL-NL_Groningen
+/. 1 - c.116G>A - r.(=) p.(Cys39Tyr) g.147207663C>T g.147828100C>T - - SPINK1_000001 - - - - Germline - - - - - Andreas Laner
-/., -?/. 3 - c.163C>T likely benign r.(=), r.(?) p.(Pro55Ser) g.147207616G>A g.147828053G>A SPINK1(NM_003122.3):c.163C>T (p.Pro55Ser) - SPINK1_000005 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Andreas Laner, VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-/. 1 - c.174C>T benign r.(?) p.(=) g.147207605G>A - SPINK1(NM_003122.4):c.174C>T (p.=) - SPINK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 2 - c.194G>A likely pathogenic r.(?) p.(Arg65Gln) g.147207585C>T - SPINK1(NM_003122.4):c.194G>A (p.R65Q) - SPINK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
+/. 2 - c.194+2T>C pathogenic r.spl? p.? g.147207583A>G - SPINK1(NM_003122.4):c.194+2T>C (r.spl?) - SPINK1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.198A>C likely benign r.(?) p.(Lys66Asn) g.147204266T>G - SPINK1(NM_003122.4):c.198A>C (p.K66N) - SPINK1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.200G>A VUS r.(?) p.(Arg67His) g.147204264C>T - SPINK1(NM_003122.4):c.200G>A (p.R67H) - SPINK1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
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