ABCC7 p.Gly194Thr
| ClinVar: |
c.581G>T
,
p.Gly194Val
?
, not provided
|
| CF databases: |
c.580G>A
,
p.Gly194Arg
(CFTR1)
?
, Ambry test result also indicate 1341+1 G to A on intron 8 and heterozygous presence of a 5T variant in intron 8.
c.581G>T , p.Gly194Val (CFTR1) ? , This mutation was found in a patient with CBAVD. |
| Predicted by SNAP2: | A: N (61%), C: D (63%), D: D (75%), E: D (80%), F: D (80%), H: D (91%), I: D (75%), K: D (85%), L: D (75%), M: D (75%), N: D (66%), P: D (80%), Q: D (80%), R: D (85%), S: N (57%), T: D (63%), V: D (66%), W: D (91%), Y: D (91%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] Clinical outcome of preimplantation genetic diagno... Eur J Hum Genet. 2007 Jul;15(7):752-8. Epub 2007 Apr 18. Keymolen K, Goossens V, De Rycke M, Sermon K, Boelaert K, Bonduelle M, Van Steirteghem A, Liebaers I
Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experience.
Eur J Hum Genet. 2007 Jul;15(7):752-8. Epub 2007 Apr 18., [PMID:17440499]
Abstract [show]
Preimplantation genetic diagnosis is an alternative for prenatal diagnosis that makes it possible to perform the diagnosis of a chromosomal or monogenic disorder at the preimplantation embryo level. Cystic fibrosis is one of the monogenic diseases for which PGD can be performed. In this study, we looked at the requests and PGD cycles for this particular disorder over an 11-year period. Sixty-eight percent of the requests eventually led to at least one complete PGD cycle. In 80% of the cycles, an embryo transfer was performed and an ongoing pregnancy was obtained in 22.2% of the cycles with oocyte retrieval. After embryo transfer, a couple had 27.8% chance of giving birth to a liveborn child. No misdiagnosis was recorded. The rate of perinatal deaths/stillborn children was relatively high, but no excess of major congenital anomalies was observed in the surviving children.
Comments [show]
None has been submitted yet.
No. Sentence Comment
68 1 p.F508del/- p.G194T/5T 1 p.F508del/ p.3272-26A4G p.R1162X/- 1 p.F508del/- p.F508del/ p.R117H (7T/9T) 1 p.F508del/- p.F508del/ p.F508del 1 p.R334W/- p.F508del/ p.F508del 1 p.F508del/- p.F508del/ p.M265R 1 p.F508del/- ?/?
X
ABCC7 p.Gly194Thr 17440499:68:16
status: NEW