5 Simple Techniques For thr777

5 Simple Techniques For thr777

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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the impact of sequence alterations on RNA splicing advise that this variant may possibly develop or fortify a splice internet site. In summary, the available evidence is at present insufficient to ascertain the role of the variant in disorder. Thus, it has been classified as a Variant of Unsure Significance.

This sequence modify has an effect on codon 777 on the GAA mRNA. It is a 'silent' transform, which means that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be Component of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-related situations.

There is no purposeful proof in ClinVar for this variation. When you've got created useful facts for this variation, you should look at distributing that info to ClinVar.

The global minor allele frequency calculated via the a thousand Genomes Task. The small allele at this place is indicated in parentheses and could be distinctive with the allele represented by this VCV file.

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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, please look at distributing that data to ClinVar.

The submitting Corporation for this submitted (SCV) file. This column also includes the SCV accession and Model quantity, the day this SCV initial appeared in ClinVar, as well as date that this SCV was past up to date in ClinVar.

These citations are discovered by LitVar using the rs range, so they may incorporate citations for multiple variant at this place. You should review the LitVar benefits diligently to your variant of fascination. History final up to date May well 19, 2024 

Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.

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The volume of variants in ClinVar for this gene, like smaller sized variants thr777 in the gene and bigger CNVs that overlap or completely comprise the gene.

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Stars represent the review position, or the extent of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on data within the submitter.