5 Easy Facts About link thr777 Described
5 Easy Facts About link thr777 Described
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This value is calculated by NCBI based upon info from submitters. Read our procedures for calculating the overview status. The quantity of submissions which contribute to this evaluate standing is revealed in parentheses.
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Stars stand for the combination review status, or the extent of evaluate supporting the combination germline classification for this VCV document.
Aberrant 5' splice web pages in human condition genes: mutation sample, nucleotide structure and comparison of computational equipment that forecast their utilization.
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This sequence modify impacts codon 777 in the GAA mRNA. It's a 'silent' alter, 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, and that is Component of the consensus splice internet site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted within the literature in individuals afflicted with GAA-connected circumstances.
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