This price is calculated by NCBI based upon details from submitters. Browse our procedures for calculating the overview status. The number of submissions which lead to this assessment status is revealed in parentheses.
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Stars characterize the aggregate assessment position, or the level of evaluate supporting the mixture germline classification for this VCV history.
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The influence of your variant on RNA or protein perform, determined by experimental proof from submitters.
This sequence change has an effect on codon 777 of your GAA mRNA. It is a 'silent' alter, which means that it does not alter the encoded amino acid sequence of your GAA protein. This variant also falls at the final nucleotide of exon 16, that's Portion of the consensus login thr777 splice site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been reported in the literature in individuals influenced with GAA-relevant situations.
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