ABCC7 p.Gly194Val
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PMID: 16126774
[PubMed]
Morea A et al: "Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility."
No.
Sentence
Comment
76
This test involved nine subjects from the infertile group, revealing the occurrence of the following rare mutations: E217G, T1054A, W356X, D443Y and 3667insTC in males and L997F and R297Q in females and 29 subjects from the control, in which we found: A1009T, D110Y, E826K, G1069R, G1130A, G194V, I556V, L320F, M348K, M82V, P1290T, R117C, R352W, R74W, S42F, S660T, S911R, S912L, T1086A, T582S, V920L and Y89C.
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ABCC7 p.Gly194Val 16126774:76:293
status: NEW
PMID: 17003641
[PubMed]
Keiles S et al: "Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis."
No.
Sentence
Comment
76
However, a G9T substitution at nucleotide position 713 results in a deleterious mutation G194V.29 We have also reported the G194R, 1341+1 G9A, and 5T variants in another African-American patient with CF from the same city.
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ABCC7 p.Gly194Val 17003641:76:89
status: NEW