thr777 Options

ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence improvements on RNA splicing counsel this variant may well build or strengthen a splice site. In summary, the obtainable evidence is at present insufficient to determine the function of this variant in disease. Therefore, it's been labeled like a Variant of Uncertain Importance.

This value is calculated by NCBI according to knowledge from submitters. Study our guidelines for calculating the review standing. The amount of submissions which add to this overview position is proven in parentheses.

There's no functional proof in ClinVar for this variation. Should you have created useful info for this variation, please think about publishing that knowledge to ClinVar.

The worldwide small allele frequency calculated because of the a thousand Genomes Challenge. The minor allele at this spot is indicated in parentheses and may be distinctive from your allele represented by this VCV report.

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Go through our procedures for calculating the evaluation status. This column also includes a website link to your submitter’s assertion conditions if provided, and the gathering process.

The submitting Corporation for this submitted (SCV) document. This column also contains the SCV accession and Variation variety, the day this SCV first appeared in ClinVar, as well as day that this SCV was previous current in ClinVar.

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Aberrant 5' splice websites in human sickness genes: mutation sample, nucleotide structure and comparison of computational thr777 instruments that forecast their utilization.

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