ABCC7 p.Tyr913*

ClinVar: c.2739T>A , p.Tyr913* ? , not provided
c.2738A>G , p.Tyr913Cys D , Pathogenic
CF databases: c.2739T>A , p.Tyr913* D , CF-causing
c.2737_2738insG , p.Tyr913* D , CF-causing
c.2738A>G , p.Tyr913Cys (CFTR1) D , This mutation is associated with haplotype A (Caucasian) and it is neither detected in 45 other non-[delta]F508 chromosomes nor in 12 normal or 33 [delta]F508 chromosomes.

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[hide] de Becdelievre A, Costa C, Jouannic JM, LeFloch A, Giurgea I, Martin J, Medina R, Boissier B, Gameiro C, Muller F, Goossens M, Alberti C, Girodon E
Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.
Hum Genet. 2011 Apr;129(4):387-96. Epub 2010 Dec 24., [PMID:21184098]

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[hide] Schrijver I, Ramalingam S, Sankaran R, Swanson S, Dunlop CL, Keiles S, Moss RB, Oehlert J, Gardner P, Wassman ER, Kammesheidt A
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
J Mol Diagn. 2005 May;7(2):289-99., [PMID:15858154]

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