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    Chymotrypsin C (CTRC)

    For citations click on nucleotide change

    Last modified: OCT/16/2017

    Region
    Nucleotide change
    Amino acid change
    Number of CP carriers reported
    Number of non-CP carriers reported
    Clinical significance
    whole gene Deletion of CTRC locus, homozygous 1 Pathogenic
    whole gene Deletion of CTRC locus, heterozygous 1 2 Pathogenic
    5 prime c.-811G>A common variant common variant Unknown
    5 prime c.-92C>T 1 Unknown
    5 prime c.-59C>T 6 3 Unknown
    5 prime c.-1C>T 1 Unknown
    intron 1 c.40+24G>A 1 Unknown
    intron 1 c.40+66G>A 1 Unknown
    intron 1 c.41-50G>A 1 Unknown
    exon 2 c.52G>A p.G18R 1 Non-pathogenic
    exon 2 c.82G>A p.A28T 1 Unknown
    exon 2 c.85C>G p.R29G 1 Pathogenic
    exon 2 c.86G>A p.R29Q 2 Pathogenic
    exon 2 c.95G>T p.G32V 1 Pathogenic
    exon 2 c.103G>C p.D35H 1 Non-pathogenic
    exon 2 c.103G>A p.D35N 1 Non-pathogenic
    exon 2 c.103G>T p.D35Y 1 Non-pathogenic
    exon 2 c.110G>A p.R37Q 7 13 Non-pathogenic
    exon 2 c.132G>A p.Q44= 1 Pathogenic
    intron 2 c.133-19C>G 1 Unknown
    exon 3 c.143A>G p.Q48R 3 1 Pathogenic
    exon 3 c.164G>A p.W55X 1 Pathogenic
    exon 3 c.180C>T p.G60= common variant common variant Pathogenic, linked with variant c.493+52G>A
    exon 3 c.181G>A p.G61R 1 Pathogenic
    exon 3 c.190_193delATTG p.I64LfsX69 3 Pathogenic
    exon 3 c.217G>A p.A73T 28 (2 hm) 3 Pathogenic
    intron 3 c.230+38C>T 2 13 Unknown
    exon 4 c.238C>T p.R80W 1 Non-pathogenic
    exon 4 c.239G>A p.R80Q 1 Non-pathogenic
    exon 4 c.285C>T p.D95= common variant common variant Non-pathogenic
    exon 4 c.308delG p.G103VfsX31 2 Pathogenic
    exon 4 c.338G>A p.W113X 1 Pathogenic
    intron 4 c.356+71G>A common variant common variant Non-pathogenic
    intron 4 c.357-69G>A 2 Unknown
    intron 4 c.357-2A>G 1 Pathogenic
    exon 5 c.453G>C p.K151N 1 Non-pathogenic
    exon 5 c.464G>A p.C155Y 1 Pathogenic
    exon 5 c.485G>A p.R162H 1 Non-pathogenic
    intron 5 c.493+49G>C 1 Unknown
    intron 5 c.493+51C>A common variant common variant Protective
    intron 5 c.493+52G>A common variant common variant Pathogenic, linked with variant c.180C>T (p.G60=)
    intron 5 c.493+93A>C 2 Unknown
    intron 5 c.494-10C>T 1 Unknown
    intron 5 c.494-1G>C 1 Pathogenic
    exon 6 c.514A>G p.K172E 7 7 Non-pathogenic
    exon 6 c.533A>G p.Q178R 4 Pathogenic
    exon 6 c.598A>G p.M200V 1 Non-pathogenic
    exon 6 c.627C>G p.I209M 1 Non-pathogenic
    intron 6 c.640-42G>C 3 Unknown
    inron 6 c.640-41G>T 7 Unknown
    intron 6 c.640-40G>A 54 Unknown
    intron 6 c.640-39G>T 1 Unknown
    intron 6 c.640-37G>T 12 Unknown
    intron 6 c.640-36G>A 39 Unknown
    intron 6 c.640-35G>T common variant common variant Non-pathogenic
    intron 6 c.640-34delG 9 7 Unknown
    intron 6 c.640-34insG 5 2 Unknown
    intron 6 c.640-12G>A 5 Pathogenic
    intron 6 c.640-6G>A 2 Unknown
    exon 7 c.640G>A p.G214R 1 Pathogenic
    exon 7 c.649G>A p.G217S 3 1 Pathogenic
    exon 7 c.649G>C p.G217R 2 Pathogenic
    exon 7 c.652G>A p.G218S 1 Non-pathogenic
    exon 7 c.659T>G p.L220R 1 Pathogenic
    exon 7 c.669G>C p.Q223H 1 Unknown
    exon 7 c.673G>A p.E225K 1 Non-pathogenic
    exon 7 c.674A>C p.E225A 1 2 Non-pathogenic
    exon 7 c.679G>A p.G227S 1 Non-pathogenic
    exon 7 c.703G>A p.V235I 45 (8 hm) 10 (1 hm) Pathogenic
    exon 7 c.715T>G p.S239A 1 Non-pathogenic
    exon 7 c.716C>G p.S239C 1 Pathogenic
    exon 7 c.725delG p.G242AfsX9 1 Pathogenic
    exon 7 c.736C>T p.R246C 1 2 Non-pathogenic
    exon 7 c.738_761del24 p.K247_R254del 27 12 Pathogenic
    exon 7 c.739A>G p.K247E 3 Non-pathogenic
    exon 7 c.746C>T p.P249L 2 Pathogenic
    exon 7 c.749T>A p.V250E 1 Pathogenic
    exon 7 c.760C>T p.R254W 70 (1 hm) 29 Pathogenic
    exon 7 c.761G>A p.R254Q 1 Non-pathogenic
    exon 7 c.769G>A p.A257T 1 Non-pathogenic
    exon 7 c.775A>G p.I259V 1 Unknown
    exon 7 c.778G>A p.D260N 1 Non-pathogenic
    exon 7 c.788A>G p.N263S 1 Non-pathogenic
    exon 7 c.789C>T p.N263= 1 Unknown
    intron 7 c.793-137A>G common variant common variant Unknown
    3 prime c.*83T>C 1 Unknown
    3 prime c.*86A>G 1 Unknown