rs267606617
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(G;G) | 5 | High risk of developing hearing loss after taking aminoglycoside antibiotics |
Make rs267606617(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 1555 |
is a | snp |
is | mentioned by |
dbSNP | rs267606617 |
dbSNP (classic) | rs267606617 |
ClinGen | rs267606617 |
ebi | rs267606617 |
HLI | rs267606617 |
Exac | rs267606617 |
Gnomad | rs267606617 |
Varsome | rs267606617 |
LitVar | rs267606617 |
Map | rs267606617 |
PheGenI | rs267606617 |
Biobank | rs267606617 |
1000 genomes | rs267606617 |
hgdp | rs267606617 |
ensembl | rs267606617 |
geneview | rs267606617 |
scholar | rs267606617 |
rs267606617 | |
pharmgkb | rs267606617 |
gwascentral | rs267606617 |
openSNP | rs267606617 |
23andMe | rs267606617 |
SNPshot | rs267606617 |
SNPdbe | rs267606617 |
MSV3d | rs267606617 |
GWAS Ctlg | rs267606617 |
Max Magnitude | 5 |
m.1555A>G; also commonly known as A1555G
First reported in 1993 and subsequently replicated in numerous studies (but not all), individuals who's mitochondria carry a G at position 1555, i.e. rs267606617(G) mitochondria, are at quite high risk of developing permanent hearing loss (deafness) when taking after receiving aminoglycoside antibiotics such as gentamicin, amikacin, tobramycin, neomycin, and streptomycin.
The incidence of inner ear toxicity (ototoxicity) varies from 7 to 90% depending of the types of antibiotics used, susceptibility of the patient to such antibiotics, and the duration of antibiotics administration.Wikipedia
ClinVar | |
---|---|
Risk | Rs267606617(G;G) |
Alt | Rs267606617(G;G) |
Reference | Rs267606617(A;A) |
Significance | Drug-response |
Disease | Aminoglycoside-induced deafness Deafness Cardiomyopathy aminoglycoside antibacterials response - Toxicity/ADR not provided |
Variation | info |
Gene | |
CLNDBN | Aminoglycoside-induced deafness Deafness, nonsyndromic sensorineural, mitochondrial Cardiomyopathy, restrictive aminoglycoside antibacterials response - Toxicity/ADR not provided |
Reversed | 0 |
HGVS | NC_012920.1:m.1555A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010254.5, RCV000010255.6, RCV000010256.5, RCV000211153.1, RCV000224935.1, |