Little Known Facts About link thr777.

Little Known Facts About link thr777.

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Remark: This sequence adjust impacts codon 777 on the GAA mRNA. It's a 'silent' alter, this means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which is Component of the consensus splice internet site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented within the literature in people afflicted with GAA-related disorders.

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Browse our policies for calculating the assessment position. This column also features a link towards the submitter’s assertion criteria if delivered, and the collection method.

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These citations are discovered by LitVar utilizing the rs quantity, so they may incorporate citations for multiple variant at this site. Be sure to review the LitVar results carefully for your personal variant of desire. History past current May perhaps twelve, 2024 

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The publishing Corporation for this submitted (SCV) report. This column also features the SCV accession and Variation selection, the day this SCV initially appeared in ClinVar, as well as day that this SCV was final up-to-date in ClinVar.

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The impact from the variant on RNA or protein functionality, determined by experimental evidence from submitters.

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There is no practical proof in ClinVar for this variation. When you've got generated practical facts for this variation, please contemplate distributing that facts to ClinVar.

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