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1 records shown · first 60Prediction of deleterious single nucleotide polymorphisms and their effect on the sequence and structure of the human CCND1 gene.
PMID 31435243 | PMCID PMC6695066 | DOI 10.1016/j.jtumed.2016.07.009 · Journal of Taibah University Medical Sciences · 2017 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs112525097 | “CONCLUSION: Based on this study, we propose that the SNP with SNP ID rs112525097 (NM_053056.2:c.648C>G) might cause aberrations in CCND1, which might lead to a change in the function of the G1/S-specific cyclin protein.” | 0.90 | hgvs_regex_v1 |
| gene | CCND1 | “Prediction of deleterious single nucleotide polymorphisms and their effect on the sequence and structure of the human CCND1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “This, in turn, may lead to the development of acute myeloid leukaemia (AML).” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | c.648C>G | “CONCLUSION: Based on this study, we propose that the SNP with SNP ID rs112525097 (NM_053056.2:c.648C>G) might cause aberrations in CCND1, which might lead to a change in the function of the G1/S-specific cyclin protein.” | 0.95 | hgvs_regex_v1 |