氨基糖苷类抗菌药,临床注释-2,变异和临床注释数据

id	等位基因	注释文本
739	G	The rs267606617 G allele (also known as the 1555G allele) is assigned as a MT-RNR1 increased risk of aminoglycoside-induced hearing loss allele by CPIC. Patients with the G allele may have an increased risk of experiencing aminoglycoside-induced hearing loss as compared to patients with the A allele. Most individuals studied were homoplasmic for the G allele; it is unclear how heteroplasmy affects the severity or occurrence of aminoglycoside-induced hearing loss. MT-RNR1 is a mitochondrial gene and is inherited as a haploid (i.e. there is only ever one allele present). Other genetic and clinical factors may also influence risk of aminoglycoside-induced hearing loss.
738	A	The rs267606617 A allele (also known as the 1555A allele) is assigned as a MT-RNR1 normal risk of aminoglycoside-induced hearing loss allele by CPIC. Patients with the A allele may have a decreased, but not absent, risk of experiencing aminoglycoside-induced hearing loss as compared to patients with the G allele. MT-RNR1 is a mitochondrial gene and is inherited as a haploid (i.e. there is only ever one allele present). Other genetic and clinical factors may also influence risk of aminoglycoside-induced hearing loss.

等位基因

注释文本

The rs267606617 G allele (also known as the 1555G allele) is assigned as a MT-RNR1 increased risk of aminoglycoside-induced hearing loss allele by CPIC. Patients with the G allele may have an increased risk of experiencing aminoglycoside-induced hearing loss as compared to patients with the A allele. Most individuals studied were homoplasmic for the G allele; it is unclear how heteroplasmy affects the severity or occurrence of aminoglycoside-induced hearing loss. MT-RNR1 is a mitochondrial gene and is inherited as a haploid (i.e. there is only ever one allele present). Other genetic and clinical factors may also influence risk of aminoglycoside-induced hearing loss.

738

The rs267606617 A allele (also known as the 1555A allele) is assigned as a MT-RNR1 normal risk of aminoglycoside-induced hearing loss allele by CPIC. Patients with the A allele may have a decreased, but not absent, risk of experiencing aminoglycoside-induced hearing loss as compared to patients with the G allele. MT-RNR1 is a mitochondrial gene and is inherited as a haploid (i.e. there is only ever one allele present). Other genetic and clinical factors may also influence risk of aminoglycoside-induced hearing loss.

id	证据的ID	总结
5276	1451440086	Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials or streptomycin.
5275	1451440060	Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials.
5274	1451439920	Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials.
5273	1451438424	Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials, gentamicin, kanamycin or streptomycin.
5272	1451437874	Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials or streptomycin.
5271	1451437800	Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials, gentamicin or streptomycin.
5270	1451437580	Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials, gentamicin, kanamycin or streptomycin.
5269	1444697495	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials or gentamicin as compared to allele A.
5268	1444697241	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials, gentamicin or streptomycin as compared to allele A.
5267	1444697228	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials, gentamicin or streptomycin as compared to allele A.
5266	1444697179	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials or streptomycin as compared to allele A.
5265	1444697136	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials, gentamicin, kanamycin or streptomycin as compared to allele A.
5264	1444697089	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials or gentamicin as compared to allele A.
5263	1449732298	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials or gentamicin as compared to allele A.
5262	1444697282	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials or gentamicin as compared to allele A.
5261	1184510153	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials, gentamicin, kanamycin or streptomycin in children as compared to allele A.
5260	1444697690	Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5259	1444697673	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5258	1444697482	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5257	1444697475	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5256	1444697456	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5255	1444697435	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5254	1444697273	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5253	1444697262	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5252	1444697205	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5251	1444697167	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5250	1444697082	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5249	1444697028	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5248	1444696981	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5247	1444696929	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.
5246	1184510147	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials in children as compared to allele A.
5245	PA166229081	Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1

证据的ID

总结

5276

1451440086

Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials or streptomycin.

5275

1451440060

Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials.

5274

1451439920

Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials.

5273

1451438424

Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials, gentamicin, kanamycin or streptomycin.

5272

1451437874

Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials or streptomycin.

5271

1451437800

Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials, gentamicin or streptomycin.

5270

1451437580

Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials, gentamicin, kanamycin or streptomycin.

5269

1444697495

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials or gentamicin as compared to allele A.

5268

1444697241

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials, gentamicin or streptomycin as compared to allele A.

5267

1444697228

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials, gentamicin or streptomycin as compared to allele A.

5266

1444697179

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials or streptomycin as compared to allele A.

5265

1444697136

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials, gentamicin, kanamycin or streptomycin as compared to allele A.

5264

1444697089

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials or gentamicin as compared to allele A.

5263

1449732298

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials or gentamicin as compared to allele A.

5262

1444697282

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials or gentamicin as compared to allele A.

5261

1184510153

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials, gentamicin, kanamycin or streptomycin in children as compared to allele A.

5260

1444697690

Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5259

1444697673

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5258

1444697482

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5257

1444697475

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5256

1444697456

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5255

1444697435

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5254

1444697273

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5253

1444697262

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5252

1444697205

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5251

1444697167

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5250

1444697082

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5249

1444697028

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5248

1444696981

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5247

1444696929

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials as compared to allele A.

5246

1184510147

Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials in children as compared to allele A.

5245

PA166229081

Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1

id	类型	评论
1034	Update	Added CPIC guideline to evidence and edited phenotype descriptions
1033	Update	Added PMID 23256547 to evidence
1032	Update	Added PMID 21777984 to evidence
1031	Update	Added PMID 21205314 to evidence
1030	Update	Added PMID 19835846 to evidence
1029	Update	Added PMID 18386806 to evidence
1028	Update	Added PMID 16152638 to evidence
1027	Update	VAs on specific drugs have been moved to new CAs. LOE changed to 2A
1026	Update	CA score added as part of scoring system release. LOE assigned following curator review.
1025	Update	Minor edits to phenotype descriptions
1024	Update	Minor edits to phenotype descriptions
1023	Update	Removed individual drugs from annotation
1022	Update
1021	Note	Though currently the majority of evidence is from pedigree analyses or case studies, this clinical annotation has been given a level 1B due to the number of supporting studies, the existence of a mechanistic explanation supporting this association, and the appearance of this variant in OMIM (http://omim.org/entry/561000#0001) and Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1422/).
1020	Create

类型

1034

Update

Added CPIC guideline to evidence and edited phenotype descriptions

1033

Update

Added PMID 23256547 to evidence

1032

Update

Added PMID 21777984 to evidence

1031

Update