CHROMOSOME 8 GGH 8q12.3 GENE VIEW GGH · 8q12.3 8q11 8q13 rs11545077 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs11545077 Alanine 31 → Serine C / A · GGH · 8q12.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs11545077

Alanine 31 → Serine Gene: GGH — Gamma-Glutamyl Hydrolase Chr 8:63038678 8q12.3
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.757341T 0.242659CC 0.576254CT/TC 0.362175TT 0.061571pop=330,934
African C 0.87451T 0.12549CC 0.766878CT/TC 0.215266TT 0.017856pop=28,114
African American C 0.87416T 0.12584CC 0.766408CT/TC 0.2155TT 0.018093pop=27,304
African Others C 0.886T 0.114CC 0.782716CT/TC 0.207407TT 0.009877pop=810
Asian C 0.7967T 0.2033CC 0.633264CT/TC 0.326952TT 0.039785pop=6,686
East Asian C 0.8051T 0.1949CC 0.647492CT/TC 0.315232TT 0.037276pop=4,346
European C 0.740877T 0.259123CC 0.549802CT/TC 0.382151TT 0.068047pop=250,032
Latin American 1 C 0.7732T 0.2268CC 0.601307CT/TC 0.343791TT 0.054902pop=6,120
Latin American 2 C 0.7941T 0.2059CC 0.630094CT/TC 0.328014TT 0.041892pop=7,018
Other C 0.76601T 0.23399CC 0.589859CT/TC 0.3523TT 0.057841pop=29,702
Other Asian C 0.7812T 0.2188CC 0.606838CT/TC 0.348718TT 0.044444pop=2,340
South Asian C 0.741T 0.259CC 0.557327CT/TC 0.367259TT 0.075414pop=3,262

Studies12

Unread Studies12
1
Acute leukemias are highly aggressive hematologic malignancies that demand intensive chemotherapy regimens. However, drug toxicity remains a major barrier to treatment success …
2
Острый лимфобластный лейкоз (ОЛЛ)—это наиболее распространенное злокачественное новообразование (ЗНО) у детей, на которое приходится около 30% всех ЗНО. …
3
Revisar en la literatura la relación entre la presencia de genes polimórficos codificantes de las enzimas que participan en la metabolización de quimioterapéuticos y su eficacia en …
4
非小细胞肺癌在肺癌中占绝大多数, 发现时多数患者已是晚期. 目前, 免疫治疗, 靶向治疗, 化疗为 其主要治疗手段, 然而临床疗效不尽人意. 辽宁省肿瘤医院于2015 年9 月收治1 例驱动基因阴性…
5
… However, DNA methylation data could not be obtained for GGH rs11545077 and GGH … Another folate pathway gene, GGH with SNPs (rs11545077 and rs1800909) significantly …
6
… GA/AA, rs11545076 TG/GG, and rs3758149 CT/TT genotypes (89.2%) was significantly higher than that in patients with rs11545077 GG, rs11545076 TT, and rs3758149 CC genotypes (…
7
Poder predecir el riesgo individual de toxicidad severa inducida por la quimioterapia basada en fluoropirimidinas sería un extraordinario avance en la personalización del tratamiento …
8
El metotrexato (MTX) es el fármaco de elección en primera línea de tratamiento para pacientes con artritis reumatoide. En las últimas décadas ha habido un gran interés para identificar …
9
Dietary and genetic factors involved in the one-carbon metabolism pathway may affect telomere length through DNA methylation and synthesis, but this has not been …
10
… Deux SNPs du MMC situés sur GGH (rs11545076 et rs11545077) étaient significativement associés au risque de CHC chez les patients porteurs d'une cirrhose d'étiologie non virale. …
11
To evaluate the efficacy and toxicity of pemetrexed combined with bevacizumab as second-line therapy for patients with advanced non–small-cell lung cancer (NSCLC) and to …
12
To identify genetic variants associated with capecitabine toxicity in fluoropyrimidine pathway genes using exome sequencing. Patients & methods: Exomes from eight capecitabine-…
Curated Studies0

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0

No unused studies.