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 internet site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the effect of sequence improvements on RNA splicing suggest this variant may well create or fortify a splice site. In summary, the offered evidence is at this time inadequate to find out the position of this variant in condition. As a result, it has been categorised for a Variant of Uncertain Significance.
This sequence improve has an effect on codon 777 on the GAA mRNA. It's a 'silent' change, indicating that it does not 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 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 persons affected with GAA-relevant conditions.
This date signifies the last time this VCV document was up-to-date. The update might be due to an update to one of several involved submitted documents (SCVs), or because of an update that ClinVar manufactured to your variant such as adding HGVS expressions or perhaps a rs amount.
This column involves more details supporting the classification, such as citations, the touch upon classification, and in depth proof presented as observations from the variant from the submitter.
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There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to take into consideration publishing that facts to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, thr777 with a connection to look at the list of variants.
These citations are recognized by LitVar utilizing the rs quantity, so They might include citations for more than one variant at this site. Make sure you critique the LitVar results meticulously for your variant of curiosity. Report past updated Could 19, 2024
Aberrant five' splice web-sites in human disorder genes: mutation sample, nucleotide construction and comparison of computational resources that predict their utilization.
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Stars represent the evaluate position, or the level of evaluation supporting the submitted (SCV) document. This value is calculated by NCBI based on details within the submitter.