Examine This Report on thr777

Examine This Report on thr777

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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the impact of sequence alterations on RNA splicing recommend this variant may well make or bolster a splice website. In summary, the accessible proof is at the moment insufficient to find out the function of the variant in illness. Consequently, it's been categorised to be a Variant of Unsure Significance.

This worth is calculated by NCBI according to data from submitters. Examine our policies for calculating the assessment position. The quantity of submissions which contribute to this critique status is revealed in parentheses.

This date signifies the final time this VCV document was up to date. The update may be resulting from an update to among the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar made towards the variant for example incorporating HGVS expressions or maybe a rs number.

The worldwide slight allele frequency calculated with the 1000 Genomes Venture. The insignificant allele at this locale is indicated in parentheses and should be distinct in the allele represented by this VCV record.

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There won't be any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, make sure you take into consideration publishing that information to ClinVar.

The number of variants in ClinVar that are contained in just this gene, that has a backlink to check out the list of variants.

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Aberrant five' splice web-sites in human ailment genes: mutation pattern, nucleotide framework and comparison of computational tools that forecast their utilization.

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The number of variants in ClinVar for this gene, like smaller sized variants in the gene and bigger CNVs that overlap or entirely contain the gene.

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Stars represent the review position, or the level of review supporting the submitted (SCV) history. This benefit is calculated by NCBI based upon facts with the submitter.