Variant: rs104893684 

    present in Gene: BCHE
    present in Chromosome: 3
    Position on Chromosome: 165830030
    Alleles of this Variant: A/G

rs104893684 in BCHE gene and Butyrylcholinesterase deficiency PMID 1349196 1992 DNA mutations associated with the human butyrylcholinesterase J-variant.

PMID 8554068 1996 Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.

PMID 15563885 2005 Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.

PMID 9388484 1997 Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells.

PMID 11928765 2002 Naturally occurring mutation, Asp70his, in human butyrylcholinesterase.

PMID 17700357 2007 Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase.

PMID 18075469 2007 Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia.

PMID 12881446 2003 Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.

PMID 9694584 1998 Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia.

PMID 10404729 1999 Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure.

PMID 2915989 1989 Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase.

PMID 9191541 1997 Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan.

PMID 9110359 1997 Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase.

PMID 7634491 1995 Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes.

PMID 16788378 2006 Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India.

PMID 25264279 2014 "Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium."

PMID 15781196 2005 Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample.

PMID 25054547 2014 "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium."

PMID 9543549 1997 Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency.

PMID 1306123 1992 Structural basis of the butyrylcholinesterase H-variant segregating in two Danish families.