Fascination About thr777
Fascination About thr777
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Remark: This sequence modify affects codon 777 of your GAA mRNA. It is a 'silent' transform, that means that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's Component of the consensus splice web-site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been noted while in the literature in individuals affected with GAA-relevant circumstances.
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the result of sequence adjustments on RNA splicing counsel that this variant may produce or fortify a splice internet site. In summary, the accessible proof is presently inadequate to ascertain the position of the variant in illness. Hence, it has been categorised like a Variant of Unsure Significance. (considerably less)
So this day could possibly be distinct from the day in the “most recent submission” claimed at the very best of this web site. Aid Comply with NCBI
These citations are identified by LitVar utilizing the rs number, so they may include citations for multiple variant at this place. Please evaluation the LitVar final results thoroughly for your variant of desire. Document past current Might 19, 2024
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The ailment to the classification, supplied by the submitter for this submitted (SCV) file. This column also involves the influenced position and allele origin of people observed with this variant.
The amount of variants in ClinVar which have been contained inside this gene, by using a link to perspective the list of variants.
Stars represent the evaluate standing, or the level of critique supporting the submitted (SCV) file. This value is calculated by NCBI dependant on information within the submitter.
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