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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 popular reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the result of sequence modifications on RNA splicing propose this variant could create or fortify a splice internet site. In summary, the available evidence is at present inadequate to ascertain the purpose of this variant in disease. For that reason, it has been categorised for a Variant of Unsure Importance. (fewer)

ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the effect of sequence adjustments on RNA splicing suggest that this variant may well make or reinforce a splice web page. In summary, the out there proof is currently insufficient to ascertain the purpose of this variant in illness. Consequently, it's been classified like a Variant of Uncertain Importance. Alright

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These citations are identified by LitVar utilizing the rs number, so they may consist of citations for more than one variant at this place. Remember to overview the LitVar benefits thoroughly for your personal variant of curiosity. File final up to date Might twelve, 2024 

Aberrant five' splice internet sites in human disease genes: mutation sample, nucleotide construction and comparison of computational applications that predict their utilization.

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The volume of variants in ClinVar for this gene, which includes lesser variants within the gene and larger CNVs that overlap or completely comprise the gene.

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

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03%). This variant hasn't been reported during the literature in men and women affected with GAA-relevant circumstances. ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence changes on RNA splicing propose this variant may generate or fortify a splice website. In summary, the readily available proof is presently insufficient to find out the job of this variant in condition. Thus, it's been categorised as being a Variant of Uncertain Significance. Okay