link alternatif thr777 - An Overview
link alternatif thr777 - An Overview
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Stars characterize the evaluate position, or the extent of critique supporting the submitted (SCV) file. This worth is calculated by NCBI determined by knowledge with the submitter.
The number of variants in ClinVar for this gene, like lesser variants inside the gene and bigger CNVs that overlap or completely contain the gene.
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the result of sequence adjustments on RNA splicing recommend this variant may perhaps make or bolster a splice site. In summary, the offered proof is presently inadequate to find out the part of this variant in sickness. Hence, it's been categorised being a Variant of Uncertain Importance. OK
These citations are discovered by LitVar using the rs variety, so they may incorporate citations for multiple variant at this location. Remember to review the LitVar benefits carefully on your variant of desire. Document very last updated Could 19, 2024
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The distributing Firm for this submitted (SCV) file. This column also contains the SCV accession and Edition quantity, the day this SCV to start with appeared in ClinVar, as well as date that this SCV was past up-to-date in ClinVar.
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The outcome in the variant on RNA or protein function, determined by experimental proof from submitters.
There isn't any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, remember to contemplate thr777 submitting that information to ClinVar.
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This worth is calculated by NCBI depending on details from submitters. Read through our guidelines for calculating the evaluate standing. The volume of submissions which lead to this review standing is revealed in parentheses.