Little Known Facts About thr777.
Little Known Facts About thr777.
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the effect of sequence adjustments on RNA splicing suggest that this variant may possibly develop or improve a splice web site. In summary, the accessible evidence is presently insufficient to ascertain the position of the variant in illness. Consequently, it's been categorized to be a Variant of Unsure Importance.
This sequence change has an effect on codon 777 of your GAA mRNA. It is a 'silent' adjust, which 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 16, which can be Portion of the consensus splice web-site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed during the literature in people affected with GAA-similar ailments.
There is no purposeful proof in ClinVar for this variation. If you have produced purposeful information for this variation, please take into account publishing that data to ClinVar.
This column incorporates more details supporting the classification, such as citations, the comment on classification, and in-depth proof furnished as observations on the variant because of the submitter.
The problem for that classification, furnished by the submitter for this submitted (SCV) record. This column also incorporates the impacted standing and allele origin of individuals observed with this particular 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, please look at submitting that info to ClinVar.
The submitting Firm for this submitted (SCV) report. This column also thr777 contains the SCV accession and version number, the day this SCV very first appeared in ClinVar, as well as day this SCV was final up to date in ClinVar.
These citations are recognized by LitVar using the rs quantity, so they may involve citations for more than one variant at this spot. Be sure to overview the LitVar benefits meticulously on your variant of desire. Record very last up to date May possibly 19, 2024
Aberrant 5' splice web-sites in human condition genes: mutation sample, nucleotide composition and comparison of computational tools that forecast their utilization.
Stars characterize the aggregate overview position, or the extent of overview supporting the aggregate germline classification for this VCV history.
The quantity of variants in ClinVar for this gene, which includes lesser variants in the gene and larger CNVs that overlap or thoroughly comprise the gene.
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