PMID: 26100556

Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.

BMC gastroenterology
D Koziel, S Gluszek, A Kowalik, M Chlopek, L Pieciak
2015-06-23

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-142459789-G-A PRSS1 c.365G>A p.Arg122His Missense 3/5 -
7-142459788-C-T PRSS1 c.364C>T p.Arg122Cys Missense 3/5 -
1-15772155-G-A CTRC c.703G>A p.Val235Ile Missense 7/8 -
7-142458430-A-G PRSS1 c.65A>G p.Asp22Gly Missense 2/5 -
1-15772227-A-C CTRC c.775A>C p.Ile259Leu Missense 7/8 -
1-15772227-A-G CTRC c.775A>G p.Ile259Val Missense 7/8 -
5-147207616-G-A SPINK1 c.163C>T p.Pro55Ser Missense 4/5 -
7-142458412-C-T PRSS1 c.47C>T p.Ala16Val Missense 2/5 -
7-117149147-G-A CFTR c.224G>A p.Arg75Gln Missense 3/27 -
1-15772190-GCAAGAAGCCGGTAGTCTACACCCG-G CTRC c.738_761del24 p.Lys247_arg254del InFrameDeletion 7/8 -
1-15772212-C-T CTRC c.760C>T p.Arg254Trp Missense 7/8 -
1-15767073-G-A CTRC c.217G>A p.Ala73Thr Missense 3/8 -
1-15772126-A-C CTRC c.674A>C p.Glu225Ala Missense 7/8 -
12-102591454-T-C PMCH c.95A>G p.Asn32Ser Missense 1/3 -