Not known Facts About thr777
Not known Facts About thr777
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The outcome with the variant on RNA or protein purpose, dependant on experimental evidence from submitters.
This sequence adjust affects codon 777 of your GAA mRNA. This is a 'silent' change, indicating that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which is Section of the consensus splice web-site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been described in the literature in persons afflicted with GAA-connected ailments.
This date represents the last time this VCV file was up-to-date. The update could be due to an update to one of several included submitted records (SCVs), or as a result of an update that ClinVar designed into the variant like adding HGVS expressions or even a rs variety.
The worldwide insignificant allele frequency calculated by the 1000 Genomes Undertaking. The small allele at this site is indicated in parentheses and may be different from the allele represented by this VCV file.
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Read our procedures for calculating the evaluation status. This column also features a url on the submitter’s assertion requirements if supplied, and the gathering system.
The publishing Business thr777 for this submitted (SCV) record. This column also incorporates the SCV accession and Edition selection, the date this SCV to start with appeared in ClinVar, along with the date this SCV was final up to date in ClinVar.
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Aberrant five' splice websites in human illness genes: mutation sample, nucleotide framework and comparison of computational resources that forecast their utilization.
Stars stand for the mixture review position, or the level of review supporting the mixture germline classification for this VCV document.
The number of variants in ClinVar for this gene, which include smaller sized variants throughout the gene and larger CNVs that overlap or entirely include the gene.
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