Not known Factual Statements About thr777

Not known Factual Statements About thr777

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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence changes on RNA splicing suggest that this variant may produce or strengthen a splice internet site. In summary, the available proof is now inadequate to find out the part of this variant in disease. Therefore, it's been labeled like a Variant of Uncertain Importance.

This sequence change influences codon 777 of the GAA mRNA. It is just a 'silent' modify, this means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part 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 described within the literature in men and women afflicted with GAA-associated circumstances.

There is no functional evidence in ClinVar for this variation. When you have generated purposeful details for this variation, be sure to consider publishing that facts to ClinVar.

This column incorporates more details supporting the classification, such as citations, the touch upon classification, and thorough proof presented as observations from the variant by the submitter.

The affliction for your classification, furnished by the submitter for this submitted (SCV) document. This column also includes the impacted standing and allele origin of people observed using this variant.

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There won't be any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, you should think about publishing that information and facts to ClinVar.

The submitting Corporation for this submitted thr777 (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.

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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 amount of variants in ClinVar for this gene, including scaled-down variants within the gene and larger CNVs that overlap or absolutely incorporate the gene.

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Stars depict the assessment status, or the extent of evaluate supporting the submitted (SCV) report. This price is calculated by NCBI determined by knowledge from your submitter.