ABCC7 p.Cys76Trp
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PMID: 20977904
[PubMed]
Schneider A et al: "Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis."
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123
Total CFTR Sequencing Results of Healthy Controls CFTR mutations SPINK1 mutations 1 -/- N34S/- 2 1584GtoA/-a N34S/- 3 F508del/-a -/- 4 F508del/-a -/- 5 G576AϩR668C/- -/- 6 IVS8 T5-TG12/-a -/- 7 IVS8 T5/TG12/- -/- 8 R75Q/-a -/- 9 R75Q/-a -/- 10 R75Q/-a -/- 11 R75Q/-a -/- 12 R75Q/-a -/- 13 R75Q/-a -/- 14 R75Q/-a -/- 15 R75Q/-a -/- 16 R75Q/-a -/- 17 9CtoT/- -/- 18 C76W/-a -/- 19 T1086A/- -/- 20 R668C/- -/- 21 N1432K/- -/- 22 I148T/- -/- 23 2657ϩ22GtoA/- -/- 24-95 -/- -/- NOTE.
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ABCC7 p.Cys76Trp 20977904:123:370
status: NEW136 CFTR Mutation Class Types and Corresponding Disease Severity CFTR mutation Exon CF mutation class Disease association % Carriers, case (n) % Carriers, controls (n) p.R75Q 3 "CP" 16.2 (80) 5.3 (525) c.1584GtoA (p.E528E) 10 "CP" 8.7 (80) 3.3 (150) p.F508del 10 II CF severe 8.7 (80) 2.3 (525) p.R560T 11 II CF severe 3.4 (29) 0 (95) IVS8 T5/TG12or13 i8 V CF mild 5.0 (80) 2.7 (150) p.F508C 10 CF mild 1.2 (80) 0 (150) p.I807M 13 CF mild 3.4 (29) 0 (95) p.D443YϩG576AϩR668Ca 9;12;13 CF mild 3.4 (29) 0 (95) p.G576AϩR668Ca 12;13 CF mild 0 (29) 1 (95) p.M952T 15 CF mild 3.4 (29) 0 (95) p.R668C 13 Other 0 (29) 1 (95) c.3139ϩ42AtoT i17a Other 3.4 (29) 0 (95) p.N1432K 24 Other 0 (29) 1 (95) c.-9CtoT 1 Other 0 (29) 1 (95) p.C76W 3 Other 0 (80) 0.7 (150) p.I148T 4 Other 0 (29) 1 (95) c.2657ϩ22GtoA i14b Other 0 (29) 1 (95) p.T1086A 17b Other 0 (29) 1 (95) NOTE.
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ABCC7 p.Cys76Trp 20977904:136:743
status: NEW