5 EASY FACTS ABOUT THR777 DESCRIBED

5 Easy Facts About thr777 Described

5 Easy Facts About thr777 Described

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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the result of sequence adjustments on RNA splicing suggest that this variant may produce or fortify a splice web page. In summary, the available proof is presently insufficient to ascertain the part of the variant in disorder. As a result, it's been labeled for a Variant of Uncertain Significance.

This benefit is calculated by NCBI according to knowledge from submitters. Study our guidelines for calculating the review standing. The number of submissions which contribute to this evaluation standing is shown in parentheses.

This day signifies the final time this VCV document was up-to-date. The update might be as a consequence of an update to one of the involved submitted documents (SCVs), or due to an update that ClinVar made towards the variant for instance introducing HGVS expressions or perhaps a rs quantity.

This column consists of additional information supporting the classification, which include citations, the comment on classification, and thorough proof provided as observations of the variant from the submitter.

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Study our procedures for calculating the overview standing. This column also includes a link on the submitter’s assertion standards if delivered, and the collection process.

The distributing Corporation for this submitted (SCV) file. This column also involves the SCV accession and Variation selection, the date this SCV initially appeared in ClinVar, as well as the date that this SCV was final updated in ClinVar.

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