Details, Fiction and thr777
Details, Fiction and thr777
Blog Article
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the effect of sequence adjustments on RNA splicing propose this variant may create or fortify a splice web-site. In summary, the available proof is at this time insufficient to determine the role of the variant in sickness. Thus, it's been classified as being a Variant of Uncertain Significance.
This sequence transform affects codon 777 in the GAA mRNA. It is a 'silent' improve, which means that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which is Component of the consensus splice site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described in the literature in people today impacted with GAA-relevant conditions.
This date represents the last time this VCV document was up to date. The update may be resulting from an update to one of several involved submitted documents (SCVs), or as a result of an update that ClinVar designed on the variant for instance including HGVS expressions or a rs quantity.
The worldwide insignificant allele frequency calculated by the a thousand Genomes Task. The small allele at this spot is indicated in parentheses and may be distinctive within the allele represented by this VCV report.
The affliction for your classification, supplied by the submitter for this submitted (SCV) file. This column also incorporates the afflicted status and allele origin of individuals noticed using this variant.
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There isn't any citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, remember to contemplate submitting that data to ClinVar.
The publishing Group for this submitted (SCV) report. This column also involves the SCV accession and version range, the day this SCV very first appeared in ClinVar, as well as the date that this SCV was previous up to date in ClinVar.
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Aberrant five' splice web sites in human condition genes: mutation pattern, nucleotide framework and comparison of computational applications that predict their utilization.
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The number of variants in ClinVar for this thr777 gene, such as smaller sized variants inside the gene and larger CNVs that overlap or absolutely consist of the gene.
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Stars represent the overview standing, or the extent of evaluate supporting the submitted (SCV) record. This price is calculated by NCBI based upon facts within the submitter.