Top latest Five thr777 Urban news
Top latest Five thr777 Urban news
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the outcome of sequence changes on RNA splicing counsel that this variant may perhaps generate or reinforce a splice web site. In summary, the obtainable proof is at present inadequate to ascertain the job of the variant in ailment. Consequently, it has been categorized to be a Variant of Unsure Significance.
This sequence transform impacts codon 777 of the GAA mRNA. It is just a 'silent' change, this means that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be A part of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in individuals impacted with GAA-linked conditions.
This date represents the last time this VCV report was current. The update could be due to an update to one of several provided submitted records (SCVs), or as a result of an update that ClinVar produced towards the variant including introducing HGVS expressions or even a rs selection.
This column contains more info supporting the classification, such as citations, the comment on classification, and detailed evidence supplied as observations of your variant because of 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 consider publishing that facts to ClinVar.
The publishing Firm for this submitted (SCV) record. This column also features the SCV accession and Edition number, the date this SCV first appeared in ClinVar, plus the day that this SCV was very last updated in ClinVar.
These citations are discovered by LitVar using the rs variety, so They could contain citations for multiple variant at this place. You should review the LitVar benefits carefully to your variant of fascination. History final up-to-date May perhaps 19, 2024
Aberrant 5' splice web sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
Stars characterize the mixture evaluation position, or the level of review supporting the combination germline classification for this VCV document.
The number of variants in ClinVar for this gene, which include smaller sized variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.
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