Helping The others Realize The Advantages Of thr777
Helping The others Realize The Advantages Of thr777
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence changes on RNA splicing recommend that this variant might generate or bolster a splice web site. In summary, the offered evidence is presently insufficient to ascertain the part of this variant in disease. For that reason, it's been classified being a Variant of Uncertain Importance.
This price is calculated by NCBI according to details from submitters. Read our policies for calculating the assessment status. The volume of submissions which add to this assessment position is demonstrated in parentheses.
There isn't a useful evidence in ClinVar for this variation. When you have generated functional data for this variation, be sure to look at distributing that knowledge to ClinVar.
This column contains additional information supporting the classification, together with citations, the touch upon classification, and specific evidence furnished as observations on the variant through the submitter.
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There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, you should consider thr777 submitting that info to ClinVar.
The volume of variants in ClinVar which have been contained inside this gene, that has a url to check out the listing of variants.
These citations are recognized by LitVar utilizing the rs quantity, so they may contain citations for multiple variant at this location. You should review the LitVar benefits cautiously to your variant of interest. File very last updated Could 19, 2024
Aberrant 5' splice websites in human condition genes: mutation sample, nucleotide structure and comparison of computational instruments that predict their utilization.
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The amount of variants in ClinVar for this gene, including scaled-down variants within the gene and larger CNVs that overlap or absolutely have the gene.
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The internet site is safe. The https:// guarantees that you are connecting to the Formal Web site Which any data you offer is encrypted and transmitted securely.