GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CTRC P23Linsufficiently evaluated not reviewed, f=0.016unknown var-GS19020-1100-36-ASM
var-GS19026-1100-36-ASM
CTRC Y49Hinsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
CTRC W55Xinsufficiently evaluated pathogenic, f=0.000unknown

(4 web hits)

CTRC K172Einsufficiently evaluated none, f=0.030unknown

(3 web hits)

var-GS18501-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
CTRC R254Wuncertain pathogenic, f=0.002dominant

Associated with idiopathic or hereditary chronic pancreatitis. We estimate carriers of this variant have around 0.1% increased risk of chronic pancreatitis (about 3-fold average, but the condition is very rare).

(38 web hits)

CTRC V255Minsufficiently evaluated not reviewedunknown
Total results: 6

Gene search

"GENE" or "GENE A123C":

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