The quantity of variants in ClinVar which are contained in this gene, by using a link to watch the list of variants.
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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the influence of sequence improvements on RNA splicing advise this variant may well build or improve a splice web page. In summary, the out there evidence is at present inadequate to find out the part of the variant in illness. As a result, it has been categorized like a Variant of Unsure Significance. (considerably less)
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the result of sequence modifications on RNA splicing recommend this variant might build or fortify a splice web page. In summary, the readily available evidence is at the moment inadequate to determine the function of this variant in condition. Hence, it has been categorised being a Variant of Uncertain Importance. OK
These citations are identified by LitVar using the rs selection, so they may involve citations for more than one variant at this site. Please critique the LitVar outcomes thoroughly for the variant of interest. Document very last updated Could 19, 2024
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The distributing Business for this submitted (SCV) document. This column also contains the SCV accession and version number, the day this SCV initially appeared in ClinVar, plus the date this SCV was very last up-to-date in ClinVar.
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The outcome of your variant on RNA or protein purpose, based upon experimental evidence from submitters.
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