ABCC7 p.Phe1099Leu
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 16189704
[PubMed]
McGinniss MJ et al: "Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples."
No.
Sentence
Comment
7
We ascertained ten novel sequence variants that are potentially disease-associated: two deletions (c.1641AG>T, c.2949_2853delTACTC), seven missense mutations (p.S158T, p.G451V, p.K481E, p.C491S, p.H949L, p.T1036N, p.F1099L), and one complex allele ([p.356_A357del; p.358I]).
X
ABCC7 p.Phe1099Leu 16189704:7:216
status: NEW67 Two novel and apparently disease-associated sequence variants were identified and are discussed below in detail (c.2949_2953 delTACTC and p.F1099L).
X
ABCC7 p.Phe1099Leu 16189704:67:140
status: NEW81 Of the seven novel missense mutations ascertained, we expect that three (p.G451V, p.T1036N, and p.F1099L) are disease-associated mutations.
X
ABCC7 p.Phe1099Leu 16189704:81:98
status: NEW82 Two of these missense mutations (p.G451V, p.F1099L) were found in patients with a clinical diagnosis of CF and carrying the Delta F508 mutation on the other allele.
X
ABCC7 p.Phe1099Leu 16189704:82:44
status: NEW