Detailed Notes on thr777

Detailed Notes on 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 frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the influence of sequence variations on RNA splicing recommend this variant may generate or improve a splice website. In summary, the readily available proof is at this time insufficient to ascertain the part of the variant in illness. Hence, it has been categorized for a Variant of Unsure Importance.

This sequence alter 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 with the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Component of the consensus splice web site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in men and women afflicted with GAA-associated ailments.

This day represents the last time this VCV document was up-to-date. The update may be on account of an update to one of the incorporated submitted information (SCVs), or due to an update that ClinVar manufactured on the variant which include adding HGVS expressions or perhaps a rs amount.

This column contains more information supporting the classification, including citations, the comment on classification, and comprehensive proof offered as observations of the variant because of the submitter.

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There won't be any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to take into account distributing that details to ClinVar.

The number of variants in ClinVar which are contained within this gene, that has a url to see the listing of variants.

These citations are identified by LitVar using the rs selection, so they may include things like citations for multiple variant at this spot. Please overview the LitVar success very carefully for your personal variant of interest. File very last updated Could 19, 2024 

Aberrant 5' splice sites in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that forecast their utilization.

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The number of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or absolutely have the gene.

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