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The quantity of variants in ClinVar for this gene, together with smaller sized variants inside the gene and larger CNVs that overlap or absolutely incorporate the gene.
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a relatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the influence of sequence adjustments on RNA splicing suggest this variant could produce or reinforce a splice website. In summary, the available proof is presently inadequate to ascertain the part of the variant in sickness. As a result, it's been classified like a Variant of Unsure Importance. OK
These citations are determined by LitVar using the rs number, so They could include citations for more than one variant at this place. Please review the LitVar success diligently in your variant of fascination. Document previous up to date May possibly 19, 2024
There is not any purposeful proof in ClinVar for this variation. When you've got created useful knowledge for this variation, remember to take into account publishing that details to ClinVar.
The distributing Group for this submitted (SCV) report. This column also features the SCV accession and version number, the day this SCV to start with appeared in ClinVar, along with the day this SCV was past current in ClinVar.
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This date represents the last time this VCV record was updated. The update may be because of an update to among the integrated submitted records (SCVs), or because of an update that ClinVar made to the variant such as introducing HGVS expressions or simply a rs amount.
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The result of your variant on RNA or protein perform, depending on experimental proof from submitters.
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