PMID: 10973878

Costes B, Girodon E, Vidaud D, Flori E, Ardalan A, Conteville P, Fanen P, Niel F, Vidaud M, Goossens M
Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19).
Clin Chem. 2000 Sep;46(9):1417-20., [PubMed]
Sentences
No. Mutations Sentence Comment
47 ABCC7 p.Tyr1092*
X
ABCC7 p.Tyr1092* 10973878:47:96
status: NEW
view ABCC7 p.Tyr1092* details
In two others, hemizygosity was suggested by the lack of heterozygosity for the ⌬F508 or Y1092X mutation in one parent of an apparently homozygous CF child (14, 15). Login to comment
51 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10973878:51:47
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10973878:51:240
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 10973878:51:233
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10973878:51:152
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10973878:51:40
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 10973878:51:160
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 10973878:51:121
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 10973878:51:128
status: NEW
view ABCC7 p.Arg347His details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 10973878:51:205
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10973878:51:107
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 10973878:51:197
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Gln493*
X
ABCC7 p.Gln493* 10973878:51:89
status: NEW
view ABCC7 p.Gln493* details
ABCC7 p.Val520Phe
X
ABCC7 p.Val520Phe 10973878:51:54
status: NEW
view ABCC7 p.Val520Phe details
ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 10973878:51:33
status: NEW
view ABCC7 p.Ser549Arg details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 10973878:51:334
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 10973878:51:26
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Tyr122*
X
ABCC7 p.Tyr122* 10973878:51:247
status: NEW
view ABCC7 p.Tyr122* details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 10973878:51:114
status: NEW
view ABCC7 p.Arg560Thr details
The mutations tested were S549N, S549R, R553X, G551D, V520F, ⌬I507, ⌬F508, Q493X, 1717-1G3A, G542X, R560T, R347P, R347H, 3849ϩ4A3G, W1282X, R334W, 1078delT, 3849ϩ10kbC3T, R1162X, N1303K, 3659delC, 3905insT, A455E, R117H, Y122X, 2183AA3G, 2789ϩ5G3A, 1898ϩ1G3A, 621ϩ1G3T, 711ϩ1G3T, and G85E. Login to comment
54 ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 10973878:54:130
status: NEW
view ABCC7 p.Arg1162* details
The three peaks absent in the fetus (arrows) are restricted to exon 19 and 5Ј intron 19 (peak 12, 3849ϩ4A3G; peak 17, R1162X; peak 19, 3659delC). Login to comment