PMID: 12454843

Durno C, Corey M, Zielenski J, Tullis E, Tsui LC, Durie P
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis.
Gastroenterology. 2002 Dec;123(6):1857-64., [PubMed]
Sentences
No. Mutations Sentence Comment
105 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12454843:105:583
status: NEW
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ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12454843:105:639
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12454843:105:830
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12454843:105:102
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12454843:105:502
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12454843:105:528
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12454843:105:534
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12454843:105:879
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Pro574His
X
ABCC7 p.Pro574His 12454843:105:200
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 12454843:105:306
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12454843:105:713
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12454843:105:804
status: NEW
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ABCC7 p.Gly1244Glu
X
ABCC7 p.Gly1244Glu 12454843:105:866
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 12454843:105:679
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 12454843:105:685
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 12454843:105:695
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 12454843:105:374
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 12454843:105:177
status: NEW
view ABCC7 p.Arg347His details
ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 12454843:105:842
status: NEW
view ABCC7 p.Arg347His details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12454843:105:496
status: NEW
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ABCC7 p.Ser1251Asn
X
ABCC7 p.Ser1251Asn 12454843:105:397
status: NEW
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ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 12454843:105:518
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 12454843:105:352
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 12454843:105:574
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 12454843:105:512
status: NEW
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ABCC7 p.Pro67Leu
X
ABCC7 p.Pro67Leu 12454843:105:549
status: NEW
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ABCC7 p.Arg1066Cys
X
ABCC7 p.Arg1066Cys 12454843:105:598
status: NEW
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ABCC7 p.Leu1077Pro
X
ABCC7 p.Leu1077Pro 12454843:105:791
status: NEW
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ABCC7 p.Asp614Gly
X
ABCC7 p.Asp614Gly 12454843:105:329
status: NEW
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ABCC7 p.Met1137Val
X
ABCC7 p.Met1137Val 12454843:105:817
status: NEW
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ABCC7 p.Arg31Leu
X
ABCC7 p.Arg31Leu 12454843:105:544
status: NEW
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CFTR Genotypes Among CF Patients With PS With and Without Pancreatitis Two mutations (n) ⌬F508/R117H (9) ⌬F508/(5T) (6) ⌬F508/3272-26A 3 G (4) ⌬F508/R347H (2) ⌬F508/P574H (2) ⌬F508/875 ϩ 1G Ͼ C (2) ⌬F508/3849 ϩ 10kb C 3 T (1) ⌬F508/A455E (1) ⌬F508/D614G (1) ⌬F508/G85E (1) ⌬F508/R347P (1) ⌬F508/S1251N (1) ⌬F508/⌬F508a (1) ⌬F508/3120G Ͼ A (1) ⌬F508/G551Da (1) G542X/R117H (1) R560T/L206W (1) R117H/R117H (1) R31L/P67L (1) 1461ins4 (AGAT)/G85E (1) G551D/(5T) (1) R1066C/3849 ϩ 10kb C Ͼ T (1) G551D/3849 ϩ 10kb C Ͼ T (1) R334W/R334W (1) R334W/681delC (1) W1282X/3489 ϩ 10kb C Ͼ T (1) One mutation (n) ⌬F508/- (18) L1077P/- (1) W1282X/- (1) M1137V/- (1) G551D/- (1) R347H/- (1) Q30X1/- (1) G1244E/- (1) R117H/- (1) 621 ϩ 2G621 ϩ 1G 3 T/- (1) NOTE. Login to comment
124 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12454843:124:374
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12454843:124:467
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 12454843:124:747
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 12454843:124:255
status: NEW
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ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 12454843:124:102
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12454843:124:278
status: NEW
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ABCC7 p.Ser1251Asn
X
ABCC7 p.Ser1251Asn 12454843:124:66
status: NEW
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ABCC7 p.Pro67Leu
X
ABCC7 p.Pro67Leu 12454843:124:186
status: NEW
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ABCC7 p.Arg1066Cys
X
ABCC7 p.Arg1066Cys 12454843:124:557
status: NEW
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ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 12454843:124:284
status: NEW
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of episodes of pancreatitis Genotype 1 0.3 12 21.7 2 ⌬F508/S1251N 2 0.3 34 30.0 1 ⌬F508/R347H 3 4.4 13 42.5 3 / 4 4.4 21 36.5 1 ⌬F508/ 5 7.3 26 40.8 10 ⌬F508/P67L 6 9.6 29 29.9 (D) 1 ⌬F508/ 7 12.0 18 39.9 1 ⌬F508/R347P 8 12.9 37 40.9 2 G542X/D1152H 9 13.0 30 50.3 1 ⌬F508/3849 ϩ 10Kbc Ͼ T 10 14.7 13 21.5 1 DF508/R117H 11 15.6 34 40.8 1 ⌬F508/2789ϩ5G Ͼ T 12 15.6 10 26.0 10 ⌬F508/R117H 13 16.0 10 22.0 14 ⌬F/508/3849 ϩ 10kbC Ͼ T 14 16.0 18 21.2 (D) 1 R1066C/3849 ϩ 10kbC Ͼ T 15 19.9 15 40.8 5 No DNA 16 23.2 19 23.2 15 ⌬F508/11234V 17 24.1 40 47.6 (D) 1 No DNA 18 26.9 25 43.3 12 No DNA 19 27.4 35 50.3 (D) 2 ⌬F508/A455E NOTE. Login to comment