thr777 - An Overview
thr777 - An Overview
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This benefit is calculated by NCBI determined by knowledge from submitters. Read our policies for calculating the review standing. The quantity of submissions which add to this assessment standing is revealed in parentheses.
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So this day can be diverse from the date from the “most recent submission” claimed at the highest of this page. Help Comply with NCBI
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The issue for the classification, furnished by the submitter for this submitted (SCV) report. This column also consists of the influenced position and allele origin of individuals noticed using this type of variant.
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This day represents the final time this VCV file was current. The update could be as a consequence thr777 of an update to one of many provided submitted data (SCVs), or resulting from an update that ClinVar made to the variant including including HGVS expressions or perhaps a rs range.
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This sequence change has an effect on codon 777 of the GAA mRNA. It is a 'silent' change, meaning that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be Element of the consensus splice web page for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported in the literature in individuals afflicted with GAA-relevant situations.
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