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The effect of your variant on RNA or protein purpose, dependant on experimental evidence from submitters.This value is calculated by NCBI based on facts from submitters. Read through our principles for calculating the evaluation position. The amount of submissions which add to this overview status is demonstrated in parentheses.There is not any pur
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the result of sequence variations on RNA splicing propose this variant may well build or fortify a splice web page