ABCMdb

PMID: 20100616

Havasi V, Rowe SM, Kolettis PN, Dayangac D, Sahin A, Grangeia A, Carvalho F, Barros A, Sousa M, Bassas L, Casals T, Sorscher EJ
Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.
Fertil Steril. 2010 Nov;94(6):2122-7. Epub 2010 Jan 25., [PubMed]

Sentences

No. Mutations Sentence Comment

50 ABCC7 p.Arg117His A ''mild`` CFTR allele that maintains partial ion channel activity, R117H, is associated with the 5Tallele in CF and 7T in CBAVD (20). Login to comment 68 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Glu831* ABCC7 p.Glu831* ABCC7 p.Pro205Ser ABCC7 p.Glu585* ABCC7 p.Leu206Trp ABCC7 p.Leu206Trp ABCC7 p.Ser1235Arg ABCC7 p.Asn1303His ABCC7 p.Asp1152His ABCC7 p.Met952Ile ABCC7 p.Leu997Phe ABCC7 p.Leu997Phe ABCC7 p.Val232Asp ABCC7 p.Arg1070Trp ABCC7 p.Arg1070Trp ABCC7 p.Leu1227Ser ABCC7 p.Ala349Val ABCC7 p.Asp110His ABCC7 p.Arg334Gln ABCC7 p.Asp614Gly ABCC7 p.His609Arg ABCC7 p.Val562Ile ABCC7 p.Ile853Phe ABCC7 p.Gly1130Ala ABCC7 p.Leu15Pro Portuguese CFTR alleles Spanish CFTR alleles Turkish CFTR alleles 5T 22 F508del 11 5T 20 F508del 14 5T 9 D1152H 14 R334W 5 D443Ya 3 D110H 3 R117H 3 G576Aa 3 F508del 2 S1235R 3 R668Ca 3 3041-11del7 2 N1303K 2 G542X 2 1767del6 2 P205S 2 R117H 2 2789þ5G>A 2 D614G 2 V232D 2 CFTRdele2(ins186) 2 G542X 1 L997F 1 3120þ1G>A 1 L206W 1 H609R 1 G1130A 1 V562I 1 N1303H 1 M952I 1 I507del 1 L206W 1 365insT 1 3272-26A>G 1 3272-26A/G 1 E585X 1 2789þ5G>A 1 L15P 1 2752-15C>G 1 G576Aa 1 R347H 1 R334Q 1 R668Ca 1 2689insG 1 R347H 1 CFTRdele2,3 1 R1070W 1 E831X 1 L1227S 1 I 1027T 1 R1070W 1 E831X 1 3272-26A>G 1 L997F 1 I853F 1 A349V 1 6T 1 Note: CFTR ¼ cystic fibrosis transmembrane conductance regulator. Login to comment