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    Serine protease inhibitor Kazal type 1 (SPINK1)

    For citations click on nucleotide change

    Last modified: JAN/01/2018

    Region
    Nucleotide change
    Amino acid change
    Number of CP carriers reported
    Number of non-CP carriers reported
    Clinical significance
    5 prime c.-28211_*2066del 1 Pathogenic
    5 prime c.-15969_*7702del 3 Pathogenic
    5 prime c.-14374A>G common variant common variant Benign
    5 prime c.-6136AAAG[44] 0 2 (2 hm) Likely benign
    5 prime c.-5444C>T 0 2 Uncertain
    5 prime c.-4754AC[20] 0 2 Likely benign
    5 prime c.-4754AC[19] 0 2 Likely benign
    5 prime c.-4568G>A 0 2 Uncertain
    5 prime c.-4141G>T 181 (40 hm) 17 Likely pathogenic, linked with p.N34S pathogenic haplotype
    5 prime c.-3980A>C common variant common variant Benign
    5 prime c.-2471A>G 0 2 Uncertain
    5 prime c.-2153A>G 0 2 Uncertain
    5 prime c.-2090A>G 0 2 Uncertain
    5 prime c.-807C>T common variant common variant Benign
    5 prime c.-320_c.55+961del 3 Pathogenic
    5 prime c.-253T>C common variant common variant Likely benign
    5 prime c.-246A>G 1 Uncertain
    5 prime c.-215G>T 3 Benign
    5 prime c.-215G>A 48 (11 hm) 4 Benign, linked with pathogenic variant c.194+2T>C
    5 prime c.-170G>A 1 Benign
    5 prime c.-164G>C 5 14 Benign
    5 prime c.-147A>G 8 1 Pathogenic
    5 prime c.-142T>C 5 Pathogenic
    5 prime c.-108G>T 1 Pathogenic
    5 prime c.-81C>T 1 Uncertain
    5 prime c.-53C>T 3 1 Likely pathogenic
    5 prime c.-52G>T 1 Pathogenic
    5 prime c.-41G>A 10 3 Uncertain
    5 prime c.-22C>T 1 4 Likely benign
    5 prime c.-14G>A 1 Benign
    5 prime c.-7T>G 5 8 Benign
    5 prime c.-2C>A 1 Uncertain
    exon 1 c.2T>G p.M1R 1 Pathogenic
    exon 1 c.2T>C p.M1T 3 2 Pathogenic
    exon 1 c.14G>A p.G5D 1 Uncertain
    exon 1 c.26T>G p.L9R 1 Uncertain
    exon 1 c.27delC p.S10VfsX5 14 11 Pathogenic
    exon 1 c.29G>A p.S10N 1 Benign
    exon 1 c.36G>C p.L12F 23 35 Benign
    exon 1 c.41T>C p.L14P 2 Pathogenic
    exon 1 c.41T>G p.L14R 5 1 Pathogenic
    exon 1 c.53C>T p.S18F 1 Uncertain
    intron 1 c.55+1G>A 1 Pathogenic
    intron 1 c.56-619T>C 1 Benign
    intron 1 c.56-151T>C 1 Benign
    intron 1 c.56-62T>C 1 Benign
    intron 1 c.56-37T>C 181 (30 hm) 19 Benign, linked with p.N34S pathogenic haplotype
    exon 2 c.75C>T p.S25= 1 3 Likely benign
    intron 2 c.87+1G>A 1 Pathogenic
    intron 2 c.87+26T>C 1 Benign
    intron 2 c.87+268A>G 18 (6 hm) 2 Benign, linked with p.N34S pathogenic haplotype
    intron 2 c.87+363A>G 1 Benign
    intron 2 c.87+703delA 0 2 Likely benign
    intron 2 c.87+705G>T 2 Benign
    intron 2 c.88-559C>T 2 Benign
    intron 2 c.88-352A>G common variant common variant Benign
    intron 2 c.88-23A>T 4 8 Benign
    exon 3 c.93_101del p.K31_Y33del 1 Likely pathogenic
    exon 3 c.98_99insA p.Y33X 1 Pathogenic
    exon 3 c.101A>G p.N34S 1888 (237 hm) 400 (9 hm) Likely benign, linked with p.N34S pathogenic haplotype
    exon 3 c.110A>G p.N37S 3 Benign
    exon 3 c.123G>C p.K41N 1 1 Pathogenic
    exon 3 c.126A>G p.I42M 1 Uncertain
    exon 3 c.133C>T p.P45S 2 Uncertain
    exon 3 c.137T>A p.V46D 1 Uncertain
    exon 3 c.143G>A p.G48E 1 1 Pathogenic
    exon 3 c.150T>G p.D50E 1 Pathogenic
    exon 3 c.160T>C p.Y54H 2 Pathogenic
    exon 3 c.163C>T p.P55S 50 (1 hm) 57 (1 hm) Benign
    exon 3 c.174C>T p.C58= 3 Uncertain
    exon 3 c.177delG p.V60YfsX35 1 Pathogenic
    exon 3 c.190A>G p.N64D 2 Pathogenic
    exon 3 c.193C>T p.R65W 1 Uncertain
    exon 3 c.194G>A p.R65Q 6 (1 hm) 2 Pathogenic
    intron 3 c.194+1G>A 1 Pathogenic
    intron 3 c.194+2T>C 324 (32 hm) 13 Pathogenic
    intron 3 c.194+13T>G 1 Benign
    intron 3 c.194+90A>T 8 Benign
    intron 3 c.194+125C>A 1 Uncertain
    intron 3 c.194+184T>A 19 Benign
    intron 3 c.194+1159C>G 2 2 Benign
    intron 3 c.194+1504A>G 1 Benign
    intron 3 c.195-1645G>C common variant common variant Benign
    intron 3 c.195-1570C>A common variant common variant Benign
    intron 3 c.195-1538C>T 1 Benign
    intron 3 c.195-1414A>T 0 2 (2 hm) Uncertain
    intron 3 c.195-1399G>A 1 Benign
    intron 3 c.195-714delA 0 2 Likely benign
    intron 3 c.195-606G>A 18 (6 hm) 2 Benign, linked with p.N34S pathogenic haplotype
    intron 3 c.195-478T>G common variant common variant Benign
    intron 3 c.195-414C>T 1 Benign
    intron 3 c.195-323C>T common variant common variant Benign
    intron 3 c.195-73_72delCT 1 Benign
    intron 3 c.195-66_-65insTTTT 105 (14 hm) 8 Benign, linked with p.N34S pathogenic haplotype
    exon 4 c.198A>C p.K66N 2 Pathogenic
    exon 4 c.199C>T p.R67C 4 2 Pathogenic
    exon 4 c.200G>A p.R67H 15 1 Pathogenic
    exon 4 c.203A>G p.Q68R 1 Protective
    exon 4 c.206C>T p.T69I 1 Pathogenic
    exon 4 c.231G>A p.G77= 1 Uncertain
    exon 4 c.236G>T p.C79F 1 Pathogenic
    3 prime c.*14_c.*15ins359 1 Pathogenic
    3 prime c.*32C>T 117 120 Benign
    3 prime c.*34C>T 4 2 Unknown
    3 prime c.*131G>A 2 Unknown
    3 prime c.*318A>T 3 (1 hm) 2 (2 hm) Uncertain
    3 prime c.*407C>G common variant common variant Benign
    3 prime c.*1191C>T 0 2 (2 hm) Uncertain
    3 prime c.*5424G>A common variant common variant Benign