The Ultimate Guide To thr777
The Ultimate Guide To thr777
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The influence of your variant on RNA or protein function, depending on experimental evidence from submitters.
This sequence modify influences codon 777 of your GAA mRNA. This is a 'silent' improve, which means that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, that's A part of the consensus splice website for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been described while in the literature in folks afflicted with GAA-associated conditions.
There isn't any practical proof in ClinVar for this variation. Should you have produced useful facts for this variation, please contemplate submitting that information to ClinVar.
The global insignificant allele frequency calculated with the a thousand Genomes Venture. The minor allele at this location is indicated in parentheses and could be various in the allele represented by this VCV history.
The affliction for your classification, furnished by the submitter for this submitted (SCV) document. This column also includes the impacted position and allele origin of individuals observed using this type of variant.
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Browse our procedures for calculating the critique standing. This column also includes a link to the submitter’s assertion criteria if offered, and the gathering technique.
The distributing Business for this submitted (SCV) history. This column also involves the SCV accession and version range, the date this SCV initially appeared in ClinVar, as well as the day that this SCV was previous current in ClinVar.
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Aberrant 5' splice sites in human disorder genes: mutation sample, nucleotide construction and comparison of computational applications that predict their utilization.
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Stars represent the evaluation standing, or the level of evaluation supporting the submitted (SCV) file. This benefit is calculated by NCBI based on data within the submitter.