5 Essential Elements For thr777
5 Essential Elements For thr777
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively typical reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the result of sequence changes on RNA splicing suggest that this variant may perhaps develop or fortify a splice site. In summary, the offered evidence is at this time inadequate to ascertain the role of the variant in disorder. Thus, it has been classified for a Variant of Unsure Importance.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' modify, this means that it doesn't change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, and that is Section of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed within the literature in persons affected with GAA-connected disorders.
There's no practical evidence in ClinVar for this variation. When you have generated functional data for this variation, please think about submitting that data to ClinVar.
This column consists of more information supporting the classification, including citations, the touch upon classification, and thorough evidence furnished as observations in the variant by the submitter.
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There aren't any citations for germline classification of this thr777 variant in ClinVar. If you understand of citations for this variation, you should consider distributing that facts to ClinVar.
The volume of variants in ClinVar that are contained within just this gene, that has a website link to view the list of variants.
These citations are recognized by LitVar utilizing the rs variety, so They might consist of citations for multiple variant at this locale. Be sure to evaluate the LitVar benefits diligently on your variant of interest. History past current May 19, 2024
Aberrant five' splice web pages in human disease genes: mutation sample, nucleotide structure and comparison of computational instruments that forecast their utilization.
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The amount of variants in ClinVar for this gene, such as smaller sized variants within the gene and larger CNVs that overlap or absolutely include the gene.
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Stars represent the review position, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on data from the submitter.