CHROMOSOME 19 XRCC1 19q13.31 GENE VIEW XRCC1 · 19q13.31 19q12 19q14 rs25487 — ~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 rs25487 Glutamine 399 → Arginine T / C · XRCC1 · 19q13.31 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C T Thymine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs25487

Glutamine 399 → Arginine Gene: XRCC1 — X-Ray Repair Cross Complementing 1 Chr 19:43551574 19q13.31 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.328219C 0.671781TT 0.112248TC/CT 0.431942CC 0.455811pop=385,024
African T 0.15641C 0.84359TT 0.025302TC/CT 0.262209CC 0.712489pop=40,708
African American T 0.15803C 0.84197TT 0.025641TC/CT 0.264771CC 0.709588pop=39,468
African Others T 0.1048C 0.8952TT 0.014516TC/CT 0.180645CC 0.804839pop=1,240
Asian T 0.26634C 0.73366TT 0.072157TC/CT 0.388367CC 0.539476pop=10,006
East Asian T 0.2652C 0.7348TT 0.070185TC/CT 0.390014CC 0.5398pop=7,010
European T 0.357837C 0.642163TT 0.127694TC/CT 0.460285CC 0.412021pop=288,534
Latin American 1 T 0.2648C 0.7352TT 0.069543TC/CT 0.390448CC 0.540008pop=4,774
Latin American 2 T 0.2587C 0.7413TT 0.074531TC/CT 0.368384CC 0.557085pop=8,426
Other T 0.3237C 0.6763TT 0.109511TC/CT 0.428376CC 0.462113pop=29,166
Other Asian T 0.269C 0.731TT 0.076769TC/CT 0.384513CC 0.538718pop=2,996
South Asian T 0.354C 0.646TT 0.137243TC/CT 0.433431CC 0.429326pop=3,410

Studies20

Unread Studies20
1
PID
A study on the association between TP53 Arg72Pro, XRCC1 Arg399Gln, GSTP1 Ile105Val, and GSTM3 indel and the risk of cutaneous squamous cell carcinoma: a systematic review and meta-analysis.
2
PID
Genetic Variants in BER Pathway Genes Confer Wilms Tumor Susceptibility: New Insights from an Eight-Center Case-Control Study in Chinese Children.
3
PID
Potential risk genotypes associated with symptoms of pesticide poisoning based on polymorphisms in the XRCC1 (rs25487 and rs1799782), SOD2 (rs4880), PON1 (rs662) and GSTP1 (rs1695) genes, in farmers in the Cienega region.
4
PID
Association Between Seven Selected Genetic Polymorphisms in DNA Repair-Related Genes and Breast Cancer Risk: Evidence from a Comprehensive Meta-analysis Including 96 Studies.
5
PID
Determination of 8-OHdG and IL-6 Levels, and of APE1 and XRCC1 DNA Repair Gene Variants, in Patients with Migraine.
6
PID
Genetic Polymorphisms and Pesticide Exposure-Related Health Manifestations Among Grape Farmers in Maharashtra, India.
7
Genetic polymorphisms of XRCC1 on cervical cancer susceptibility risk.
8
PID
The contribution of XRCC1 gene variants (rs1799782, rs25489, and rs25487) to risk of gastric and colorectal cancers: a systematic review and meta-analysis.
9
PID
Genetic variants in 8-oxoguanine DNA glycosylase 1 (OGG1) and X-ray repair cross-complementing protein 1 (XRCC1) and non-genetic factors are associated with bladder cancer susceptibility and prognosis in a Brazilian population.
10
PID
Genetic variations in base excision repair genes and the risk of developing hepatoblastoma: A five-center case-control study from East China.
11
PID
DNA Repair Gene Polymorphisms as Genetic Factors Associated with Presence of Seborrheic Keratoses.
12
PID
X-Ray Repair Cross-Complementing Group 1 Genetic Polymorphisms and the Risk of Sudden Sensorineural Hearing Loss.
13
PID
Single Nucleotide Polymorphisms as Biomarkers of Response to Neoadjuvant Chemoradiotherapy in Rectal Cancer: A Systematic Review.
14
PID
Impact of pesticide exposure on base excision repair gene polymorphisms in the Haryana population.
15
PID
Polymorphisms in DNA repair related genes as risk factors for lung cancer in Cuban population: a case control study.
16
PID
A Case-Control Study on Combined Effects of Base Excision Repair and Nucleotide Excision Repair Gene Polymorphisms in Gastrointestinal Cancer Susceptibility.
17
PID
Biomarker Potential of DNA Repair Genes XRCC1, XRCC3 and RAD51 Polymorphisms in Ovarian Cancer Patients.
18
PID
Association of XRCC1 Gene Polymorphism with an Increased Risk of Hepatocellular Carcinoma in the Peshawar Population.
19
PID
Effect of Repair Gene Polymorphism on the Risk of Malignant Neoplasm Development after Chronic Radiation Exposure.
20
[Relationship of GSTP1 and XRCC1 gene polymorphisms with chemotherapy sensitivity and prognosis of prostate cancer].
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.