thr777 Options
thr777 Options
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the result of sequence improvements on RNA splicing propose that this variant may well generate or reinforce a splice internet site. In summary, the readily available evidence is at this time inadequate to determine the part of this variant in illness. For that reason, it's been labeled like a Variant of Uncertain Significance.
This value is calculated by NCBI depending on facts from submitters. Browse our regulations for calculating the evaluate position. The quantity of submissions which contribute to this critique position is proven in parentheses.
This date signifies the last time this VCV file was current. The update could possibly be because of an update to one of the incorporated submitted data (SCVs), or resulting from an update that ClinVar produced for the variant for example including HGVS expressions or maybe a rs number.
The worldwide minimal allele frequency calculated because of the 1000 Genomes Challenge. The slight allele at this location is indicated in parentheses and will be various from your 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 are aware of of citations for this variation, be sure to think about publishing that facts to ClinVar.
The amount of variants in ClinVar which are contained within just this gene, by using a link to watch the list of variants.
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Stars depict the mixture review position, or the extent of assessment supporting the combination germline classification for this VCV report.
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