The best Side of thr777
The best Side of thr777
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The submitting organization for this submitted (SCV) document. This column also contains the SCV accession and version amount, the date this SCV 1st appeared in ClinVar, plus the day this SCV was past current in ClinVar.
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the result of sequence alterations on RNA splicing propose that this variant may well create or fortify a splice website. In summary, the offered evidence is at present inadequate to find out the role of this variant in illness. Thus, it's been categorised as a Variant of Uncertain Significance. Alright
These citations are discovered by LitVar utilizing the rs number, so they may include citations for more than one variant at this place. Make sure you assessment the LitVar benefits thoroughly for your personal variant of desire. History very last up-to-date May possibly 19, 2024
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The quantity of variants in ClinVar that are contained inside this gene, by using a connection to see the listing of variants.
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The effect on the variant on RNA or protein function, based upon experimental proof from submitters.
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