ABCC7 p.Gly1173Ser

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PMID: 23810505 [PubMed] Prach L et al: "Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California."
No. Sentence Comment
56 Multiplex ligation-dependent probe amplification12 (MRC-Holland, Amsterdam, The Netherlands) was used to determine gross deletions or duplications when CF was suspected but no or one CFTR mutations were detected by Table 1 Description of Novel CFTR Variants Identified in California, July 16, 2007, to July 15, 2010 CFTR region Nucleotide change Predicted amino acid change Type of mutation Promoter c.-983A>T Promoter c.-967T>C Promoter c.-837T>C Promoter c.-769A>G Promoter c.-730A>G Promoter c.-684G>A Promoter c.-635A>G Promoter c.-602A>T Promoter c.-510G>A Promoter c.-448A>G Promoter c.-288G>C Promoter c.-152G>C Exon 1 c.38C>G p.S13C Missense Exon 2 c.94C>A p.L32M Missense Intron 2 c.164 &#fe; 4T>A Exon 3 c.226T>C p.C76R Missense Exon 4 c.335A>G p.D112G Missense Exon 4 c.407T>C p.L136P Missense Exon 4 c.472_474delAAG p.K114del In-frame deletion Intron 6 c.744-15T>C Exon 7 c.745G>T p.D249Y Missense Intron 7 c.869 &#fe; 8G>T Exon 8 c.944T>C p.F315S Missense Exon 8 c.968T>C p.L323P Missense Exon 8 c.974A>G p.Y325C Missense Exon 8 c.1064C>T p.P355Ly Missense Exon 10 c.1278delC p.D426Efs*16 (stop codon at 441) Frameshift Exon 11 c.1479G>C p.Q493Hy Missense Exon 14 c.1885A>G p.T629A Missense Exon 14 c.2153C>G p.P718R Missense Exon 14 c.2433G>T p.R811S Missense Exon 14 c.2349_2350insT p.H784Sfs*21 (stop codon at 804) Frameshift Intron 13 c.1767-13T>G Intron 14 c.2490 &#fe; 14G>A Intron 14 c.2490 &#fe; 14G>T Exon 15 c.2554_2555insT p.Y852Lfs*44 (stop codon at 895) Frameshift Exon 15 c.2510T>C p.M837T Missense Exon 17 c.2659A>C p.T887P Missense Exon 17 c.2883_2886dupGTCA p.T963Vfs*13 (stop codon at 975) Frameshift Exon 17 c.2822delT p.L941Qfs*27 (stop codon at 967) Frameshift Exon 19 c.3064G>A p.V1022M Missense Exon 20 c.3319T>C p.F1107L Missense Intron 20 c.3367 &#fe; 3A>Cy Exon 21 c.3382A>G p.R1128G Missense Exon 21 c.3418A>T p.M1140L Missense Exon 22 c.3517G>A p.G1173S Missense Exon 22 c.3592G>A p.V1198M Missense Intron 22 c.3718-24G>A Intron 23 c.3963 &#fe; 6G>T Exon 25 c.3964G>C p.V1322L Missense Exon 25 c.4123C>A p.H1375N Missense Intron 25 c.4136 &#fe; 12A>G Exon 26 c.4186A>C p.T1396P Missense Intron 26 c.4243-5C>T Exon 27 c.4433C>G p.T1478R Missense y A known mutation occurs at the same nucleotide position or codon.
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ABCC7 p.Gly1173Ser 23810505:56:1889
status: NEW
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184 Parental testing for participants 45, 46, and 59, all diagnosed as CFTR carriers, showed the following mutation pairs to be in cis: p.G85E with c.744-15T>C (novel), p.N1303K with c.2490 &#fe; 14G>A (novel), and c.164 &#fe; 4T>A (novel) with p.G1173S (novel), respectively.
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ABCC7 p.Gly1173Ser 23810505:184:243
status: NEW
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185 ESP reported the p.G1173S variant with a frequency of 1 in 10,757 (0.01%), and the c.- 461A>G variant had a frequency of 2 in 2188 (0.09%) according to 1000 Genomes.5 Novel Variants Probably Not Causative of CF Manifestations to Date Twenty-six participants carrying 26 of the 55 novel variants (47%) have not shown consistent manifestations of CF over time.
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ABCC7 p.Gly1173Ser 23810505:185:19
status: NEW
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