5 Simple Techniques For thr777
5 Simple Techniques For thr777
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The effect of your variant on RNA or protein purpose, based on experimental proof from submitters.
This worth is calculated by NCBI according to data from submitters. Browse our regulations for calculating the overview status. The volume of submissions which contribute to this review position is demonstrated in parentheses.
There is not any purposeful proof in ClinVar for this variation. When you've got created useful facts for this variation, you should look at distributing that knowledge to ClinVar.
The global minor allele frequency calculated by the a thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be different with the allele represented by this VCV report.
The issue for the classification, supplied by the submitter for this submitted (SCV) document. This column also features the impacted standing and allele origin of people observed using this variant.
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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate distributing that facts to ClinVar.
The amount of variants in ClinVar which might be contained in this gene, using a hyperlink to view the listing of variants.
These citations are determined by LitVar utilizing the rs amount, so They could consist of citations for multiple variant at this location. Remember to review the LitVar final results diligently to your variant of fascination. Record final up-to-date May perhaps 19, 2024
Aberrant five' splice sites in human disorder genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
Stars signify the combination overview status, or the extent of overview supporting the aggregate germline classification for this VCV history.
The location thr777 is protected. The https:// guarantees that you'll be connecting towards the official Web page Which any info you present is encrypted and transmitted securely.
The site is secure. The https:// assures that you'll be connecting to the official Web site and that any details you supply is encrypted and transmitted securely.
Stars depict the evaluate position, or the level of overview supporting the submitted (SCV) report. This price is calculated by NCBI based upon facts with the submitter.