thr777 - An Overview

thr777 - An Overview

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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the effect of sequence alterations on RNA splicing advise this variant could generate or fortify a splice web page. In summary, the accessible evidence is currently inadequate to ascertain the position of this variant in ailment. For that reason, it has been classified as a Variant of Unsure Significance.

This worth is calculated by NCBI according to data from submitters. Browse our regulations for calculating the overview status. The quantity of submissions which contribute to this evaluate standing is revealed in parentheses.

There is no functional proof in ClinVar for this variation. When you've got created practical information for this variation, make sure you contemplate publishing that facts to ClinVar.

This column incorporates more information supporting the classification, which include citations, the comment on classification, and thorough proof supplied as observations on the variant by the submitter.

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There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, you should take into consideration publishing that facts to ClinVar.

The number of variants in ClinVar which have been contained within just this gene, by using a hyperlink to view the listing of variants.

These citations are discovered by LitVar using the rs variety, so They could incorporate citations for multiple variant at this place. You should review the LitVar benefits carefully to your variant of fascination. Record final up to date May perhaps 19, 2024 

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

Stars represent the combination overview status, or the extent of assessment supporting the combination germline classification for this VCV report.

The volume of variants in ClinVar for this gene, thr777 like smaller variants in the gene and bigger CNVs that overlap or completely comprise the gene.

The internet site is protected. The https:// guarantees you are connecting into the Formal website and that any details you give is encrypted and transmitted securely.

Stars characterize the evaluate standing, or the level of evaluation supporting the submitted (SCV) record. This value is calculated by NCBI based upon information with the submitter.