Helping The others Realize The Advantages Of thr777
Helping The others Realize The Advantages Of thr777
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the effect of sequence alterations on RNA splicing counsel this variant may well build or reinforce a splice site. In summary, the available proof is now inadequate to find out the position of this variant in illness. Consequently, it's been labeled being a Variant of Uncertain Importance.
This benefit is calculated by NCBI determined by knowledge from submitters. Study our guidelines for calculating the review standing. The quantity of submissions which lead to this review standing is shown in parentheses.
There isn't a purposeful proof in ClinVar for this variation. If you have created purposeful data for this variation, please consider publishing that facts to ClinVar.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and should be distinct in the allele represented by this VCV history.
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There are no citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that facts to ClinVar.
The amount of variants in ClinVar which are contained within this gene, which has a url to check out the listing of variants.
These citations are identified by LitVar using the rs selection, so they may include things like citations for more than one variant at this spot. Be sure to critique the LitVar outcomes thoroughly for the variant of interest. Report last updated May possibly 19, 2024
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Stars represent the combination overview status, or the extent of overview supporting the aggregate germline classification for this VCV report.
The internet site is secure. The https:// assures that you are connecting on the Formal Web site and that any facts you provide is encrypted and transmitted securely.
The positioning is safe. The https:// makes sure that you're connecting on the Formal Web-site Which any info you supply is encrypted and transmitted securely.
The positioning is secure. The https:// makes sure thr777 that you will be connecting on the official Web-site and that any information you deliver is encrypted and transmitted securely.