The best Side of thr777
The best Side of thr777
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively popular reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the impact of sequence modifications on RNA splicing recommend this variant might generate or bolster a splice web site. In summary, the out there evidence is at this time inadequate to find out the function of this variant in disease. As a result, it has been classified like a Variant of Unsure Importance.
This sequence transform impacts codon 777 of the GAA mRNA. It is just a 'silent' improve, that means that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, and that is Element of the consensus splice website for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been described inside the literature in individuals afflicted with GAA-associated ailments.
This date signifies the last time this VCV record was up to date. The update may very well be resulting from an update to one of the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant for example incorporating HGVS expressions or simply a rs selection.
The worldwide minimal allele frequency calculated because of the a thousand Genomes Undertaking. The insignificant allele at this location is indicated in parentheses and could be unique through the allele represented by this VCV file.
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The aggregate germline classification for this variant, usually for your monogenic or Mendelian ailment as in the ACMG/AMP suggestions, or for response to some drug. This worth is calculated by NCBI based upon facts from submitters. Browse our guidelines for calculating the aggregate classification.
There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, you thr777 should take into account publishing that facts to ClinVar.
The amount of variants in ClinVar which might be contained inside of this gene, having a connection to watch the list of variants.
These citations are recognized by LitVar utilizing the rs number, so They might involve citations for more than one variant at this site. Please overview the LitVar results meticulously for your variant of curiosity. Report last up to date May possibly 19, 2024
Aberrant 5' splice internet sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational equipment that predict their utilization.
Stars depict the aggregate review standing, or the level of evaluate supporting the mixture germline classification for this VCV document.
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Stars depict the overview standing, or the level of evaluate supporting the submitted (SCV) history. This price is calculated by NCBI based upon facts from the submitter.