Not known Facts About thr777

Not known Facts About thr777

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ClinVar contains 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 created to predict the result of sequence changes on RNA splicing recommend that this variant might create or bolster a splice internet site. In summary, the accessible proof is presently inadequate to find out the purpose of this variant in illness. Consequently, it has been categorised for a Variant of Uncertain Significance.

This sequence adjust has an effect on codon 777 with the GAA mRNA. It's a 'silent' improve, that 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, which is part 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 inside the literature in persons afflicted with GAA-associated problems.

This day represents the last time this VCV document was up to date. The update could be due to an update to on the list of involved submitted documents (SCVs), or because of an update that ClinVar created to your variant which include introducing HGVS expressions or perhaps a rs quantity.

The global minor allele frequency calculated by the one thousand Genomes Undertaking. The small allele at this location is indicated in parentheses and could be unique from the allele represented by this VCV file.

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There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, be sure to take into consideration publishing that facts to ClinVar.

The amount of variants in ClinVar which can be contained within this gene, which has a backlink to check out the listing of variants.

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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 have the gene.

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Stars represent the review position, or the extent of assessment supporting the submitted (SCV) document. This benefit is calculated by NCBI determined by data from the submitter.