rs1136201
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1136201(A;G) |
| Make rs1136201(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 39723335 |
| Gene | ERBB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1136201 |
| dbSNP (classic) | rs1136201 |
| ClinGen | rs1136201 |
| ebi | rs1136201 |
| HLI | rs1136201 |
| Exac | rs1136201 |
| Gnomad | rs1136201 |
| Varsome | rs1136201 |
| LitVar | rs1136201 |
| Map | rs1136201 |
| PheGenI | rs1136201 |
| Biobank | rs1136201 |
| 1000 genomes | rs1136201 |
| hgdp | rs1136201 |
| ensembl | rs1136201 |
| geneview | rs1136201 |
| scholar | rs1136201 |
| rs1136201 | |
| pharmgkb | rs1136201 |
| gwascentral | rs1136201 |
| openSNP | rs1136201 |
| 23andMe | rs1136201 |
| SNPshot | rs1136201 |
| SNPdbe | rs1136201 |
| MSV3d | rs1136201 |
| GWAS Ctlg | rs1136201 |
| Merged from | Rs1801200 |
| GMAF | 0.1556 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs1136201 (Ile655Val) is a SNP within ERBB2/HER2 (Human epidermal growth factor receptor 2).
[PMID 18237248] (among 56 patients with breast cancer and 45 healthy women) Ile-Val and Val-Val genotypes exhibited highly significant serum HER-2 elevation compared to those homozygous for Ile-Ile
[PMID 17693647] among 61 patients with advanced breast cancers and treated by trastuzumab, all cases of cardiotoxicity occurred in the Ile-Val group and there was no cardiac toxicity in the Val-Val and Ile-Val patients, there was no link found between tumor response and survival w/ HER2 genotype
[PMID 21474413] Lack of replication for the association between HER2 I655V polymorphism and breast cancer risk: A systematic review and meta-analysis
| ClinVar | |
|---|---|
| Risk | rs1136201(G;G) rs1136201(T;T) |
| Alt | rs1136201(G;G) rs1136201(T;T) |
| Reference | Rs1136201(A;A) |
| Significance | Non-pathogenic |
| Disease | ERBB2 POLYMORPHISM not specified |
| Variation | info |
| Gene | ERBB2 |
| CLNDBN | ERBB2 POLYMORPHISM not specified |
| Reversed | 0 |
| HGVS | NC_000017.10:g.37879588A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014887.2, RCV000120744.1, |
[PMID 17132159
] Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study.
[PMID 17267408] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
[PMID 17598910] Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia.
[PMID 19055823] The genetic polymorphisms of HER-2 and the risk of lung cancer in a Korean population.
[PMID 19240718] Tagging single-nucleotide polymorphisms in candidate oncogenes and susceptibility to ovarian cancer.
[PMID 19336545] Heritable variation of ERBB2 and breast cancer risk.
[PMID 19438491] The effects of obesity and HER-2 polymorphisms as risk factors for endometrial cancer in Korean women.
[PMID 19822020] Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.
[PMID 20922573] Functional polymorphisms associated with disease-free survival in resected carcinoma of the esophagus.
[PMID 21649724] Variation in human genetic polymorphisms, their association with Helicobacter pylori acquisition and gastric cancer in a multi-ethnic country.
[PMID 26049584] Influence of the HER2 Ile655Val polymorphism on trastuzumab-induced cardiotoxicity in HER2-positive breast cancer patients: a meta-analysis
[PMID 27293060] Role of HER-2 Ile655Val Polymorphism as Universal Cancer Susceptibility Marker among Different Cancers.
[PMID 30594345] Roles of pharmacogenomics in non-anthracycline antineoplastic-induced cardiovascular toxicities: A systematic review and meta-analysis of genotypes effect.
[PMID 30719131] The Effect of HER2 Single Nucleotide Polymorphisms on Cervical Cancer Susceptibility and Survival in a Chinese Population.
[PMID 33331402] Human Epidermal Growth Factor Receptor-2 gene polymorphism and breast cancer risk in women from the Northeastern region of Brazil.
