The quantity of variants in ClinVar which are contained in this gene, which has a link to see the list of variants.

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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the impact of sequence changes on RNA splicing advise that this variant may perhaps generate or reinforce a splice web page. In summary, the offered evidence is at this time inadequate to determine the role of the variant in disease. Thus, it has been labeled as a Variant of Unsure Significance. (less)

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Stars signify the mixture critique position, or the level of evaluation supporting the mixture germline classification for this VCV file.

These citations are identified by LitVar using the rs quantity, so They could include citations for more than one variant at this place. Make sure you assessment the LitVar final results meticulously on your variant of fascination. File final updated Might twelve, 2024 

Aberrant five' splice websites in human sickness genes: mutation pattern, nucleotide composition and comparison of computational equipment that forecast their utilization.

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The effect of the variant on RNA or protein function, based on thr777 experimental proof from submitters.

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