Fascination About link alternatif thr777
Fascination About link alternatif thr777
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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the outcome of sequence alterations on RNA splicing advise that this variant may produce or fortify a splice internet site. In summary, the offered evidence is at this time insufficient to find out the part of this variant in illness. Therefore, it has been labeled being a Variant of Unsure Significance. Alright
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These citations are recognized by LitVar utilizing the rs range, so they may contain citations for multiple variant at this spot. Be sure to critique the LitVar results very carefully for the variant of fascination. History final up-to-date Could twelve, 2024
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There won't be any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that information and facts to ClinVar.
The global minimal allele frequency calculated by the 1000 Genomes Task. The insignificant allele at this location is indicated in parentheses and slot thr777 will be diverse within the allele represented by this VCV record.
There isn't any practical proof in ClinVar for this variation. If you have generated practical facts for this variation, be sure to contemplate distributing that facts to ClinVar.