The 5-Second Trick For slot thr777
The 5-Second Trick For slot thr777
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Comment: This sequence adjust impacts codon 777 of your GAA mRNA. It is a 'silent' improve, which means that it does not change the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon 16, which can be A part of the consensus splice site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in individuals impacted with GAA-relevant disorders.
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Study our policies for calculating the evaluate position. This column also features a link to your submitter’s assertion standards if supplied, and the gathering system.
So this day may very well be diverse through the day in the “most recent submission” reported at the highest of this web site. Assistance Abide by NCBI
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These citations are determined by LitVar utilizing the rs range, so they may contain citations for multiple variant at this area. Be sure to overview the LitVar outcomes diligently in your variant of desire. History past current May perhaps twelve, 2024
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The impact of your variant on RNA or protein purpose, based upon experimental evidence from submitters.
There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to take into consideration publishing that information and facts to ClinVar.
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