Page 123 - Personalised medicine of fluoropyrimidines using DPYD pharmacogenetics Carin Lunenburg

Supplement
DPYD:
*2A/*2A wildtype/*13 wildtype/c.2846A>T
DPYD:
wildtype/*2A c.1236G>A/c.1236G>A c.2846A>T/c.2846A>T
DPYD:
wildtype/*2A wildtype/c.1236G>A c.2846A>T/c.2846A>T
DPYD:
wildtype/*2A c.1236G>A/c.1236G>A wildtype/c.2846A>T
DPYD:
wildtype/*2A wildtype/c.1236G>A wildtype/c.2846A>T
DPYD:
wildtype/*2A
*13/*13 c.1236G>A/c.1236G>A
DPYD:
wildtype/*2A *13/*13 wildtype/c.1236G>A
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
A:A *2A
T:G *13
G:G
A:T c.2846A>T
G:A *2A
T:T
A:A c.1236G>A T:T c.2846A>T
G:A *2A
T:T
G:A c.1236G>A T:T c.2846A>T
G:A *2A
T:T
A:A c.1236G>A A:T c.2846A>T
G:A *2A
T:T
G:A c.1236G>A A:T c.2846A>T
G:A *2A
G:G *13
A:A
A:A c.1236G>A
G:A *2A
G:G *13
G:A c.1236G>A A:A
GENE ACTIVITY SCORE 0
Unable to predict the gene activity score
(GENE ACTIVITY SCORE 0 to 0.5). The
activity of the allele with two variants
(c.1236G>A and c.2846A>T) is not known,
because it is not known whether the
variants have an independent or synergistic 4 effect or whether the second variant does
not have an additional effect.
Unable to predict the gene activity score. Phenotyping should distinguish if *2A and c.1236G>A are present on separate alleles (GENE ACTIVITY SCORE 0 to 0.5) or on the same allele (GENE ACTIVITY SCORE 0.5). When both variants are located on separate alleles, the activity of the allele with the two variants c.1236G>A and c.2846A>T
is not known, because it is not known whether the variants have an independent or synergistic effect or whether the second variant does not have an additional effect.
Unable to predict the gene activity score. Phenotyping should distinguish if *2A and c.2846A>T are present on separate alleles (GENE ACTIVITY SCORE 0 to 0.5) or on the same allele (GENE ACTIVITY SCORE 0.5). When both variants are located on separate alleles, the activity of the allele with the two variants c.1236G>A and c.2846A>T
is not known, because it is not known whether the variants have an independent or synergistic effect or whether the second variant does not have an additional effect.
Unable to predict the gene activity score (GENE ACTIVITY SCORE 0 to 1). Phenotyping should distinguish which variants are present on the same allele. The activity of an allele with the two variants c.1236G>A and c.2846A>T is not known, because it
is not known whether the variants have an independent or synergistic effect or whether the second variant does not have an additional effect.
GENE ACTIVITY SCORE 0
GENE ACTIVITY SCORE 0
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