Little Known Facts About thr777.
Little Known Facts About thr777.
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The outcome with the variant on RNA or protein purpose, based upon experimental evidence from submitters.
This sequence transform impacts codon 777 of the GAA mRNA. It is just a 'silent' transform, indicating that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, which is Element of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed from the literature in persons affected with GAA-linked circumstances.
There's no practical proof in ClinVar for this variation. When you have generated practical data for this variation, you should consider submitting that data to ClinVar.
The worldwide slight allele frequency calculated via the a thousand Genomes Project. The insignificant allele at this site is indicated in parentheses and will be distinct in the allele represented by this VCV record.
The problem with the classification, supplied by the submitter for this submitted (SCV) history. This column also involves the affected standing and allele origin of people noticed using this variant.
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Read through our regulations for calculating the critique standing. This column also includes a link into the submitter’s assertion standards if presented, and the collection method.
The publishing Corporation for this submitted (SCV) report. This column also includes the SCV accession and version selection, the day this SCV very first appeared in ClinVar, and the date this SCV was last up-to-date in ClinVar.
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Aberrant five' splice sites in human illness genes: mutation pattern, nucleotide composition and comparison of computational resources that forecast their utilization.
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The number of variants in ClinVar for this gene, which include lesser variants inside the gene and larger CNVs that overlap or fully comprise the gene.
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