What Does thr777 Mean?
What Does thr777 Mean?
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence adjustments on RNA splicing propose that this variant may possibly build or strengthen a splice web site. In summary, the readily available proof is at the moment insufficient to determine the function of the variant in sickness. Thus, it has been labeled for a Variant of Uncertain Significance.
This sequence change affects codon 777 with the GAA mRNA. It's a 'silent' improve, that means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be 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-connected circumstances.
There is no useful evidence in ClinVar for this variation. When you have created useful information for this variation, please take into consideration distributing that facts to ClinVar.
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 by the submitter.
The affliction to the classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced position and allele origin of individuals observed using this type of variant.
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There isn't any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please look at distributing that facts to ClinVar.
The volume of variants in ClinVar which have been contained within just this gene, by using a hyperlink to view the listing of variants.
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Stars symbolize the aggregate evaluate position, or the extent of evaluation supporting the mixture germline classification for this VCV file.
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