ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the impact of sequence variations on RNA splicing suggest this variant may produce or reinforce a splice web site. In summary, the out there proof is at the moment insufficient to determine the function of the variant in sickness. Hence, it's been categorized as being a Variant of Uncertain Importance.

This benefit is calculated by NCBI determined by info from submitters. Study our rules for calculating the evaluate standing. The number of submissions which lead to this evaluation position is shown in parentheses.

This day signifies the final time this VCV record was up to date. The update can be as a result of an update to among the list of included submitted information (SCVs), or on account of an update that ClinVar built to the variant including including HGVS expressions or possibly a rs variety.

The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and should be distinct in the allele represented by this VCV record.

The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted status and allele origin of individuals observed using this type of variant.

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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please consider publishing that information and facts to ClinVar.

The quantity of variants in ClinVar which might be contained inside of this gene, with a connection to look at the list thr777 of variants.

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Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide structure and comparison of computational applications that forecast their utilization.

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The quantity of variants in ClinVar for this gene, including scaled-down variants within the gene and larger CNVs that overlap or absolutely incorporate the gene.

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Stars stand for the review status, or the extent of review supporting the submitted (SCV) history. This benefit is calculated by NCBI dependant on information in the submitter.