Furthermore, high KIR3DL2 mutant variant allele frequency
KIR3DL2 was predictive of complete response to tipifarnib in AITL.
Newborns with Down syndrome are more likely to survive without leukemia if they have silent TAM, compared with those who have clinical TAM, and if they have an estimated variant allele frequency
above 15%, according to findings from the Oxford study.
We include an example of the ASXL1 c.1934dupG (p.Gly646fs) variant that appears as an artifact at low variant allele frequency
and a true somatic variant at higher variant allele frequencies, because of the presence of sequencing artifact as a result of the 8-bp homopolymer that is located at the mutation site.
gov/SNP/).(c) NA, not assigned.(d) The accession numbers for the reference proteins of MUTYH and OGG1 are E5KP25 and O15527, respectively.(e) Variant allele frequency
in a reference database of genetic variations in the Japanese population (http://www.
MTHFR 677T variant allele frequency
in European population (32%, P<0.001) was higher than Indian healthy subjects (10%) while TS 3 UTR 0bp (deletion) polymorphism was lower in European (27%, P<0.
Genotyping revealed the A180T variant only in 7 unrelated individuals, suggesting a variant allele frequency
of 0.3% in the Spanish population.
Polymorphisms with a variant allele frequency
> 20% were thereafter analyzed in the entire population.