5 Simple Techniques For thr777

5 Simple Techniques For thr777

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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the outcome of sequence modifications on RNA splicing counsel this variant might make or improve a splice web page. In summary, the available evidence is at present insufficient to determine the function of this variant in sickness. Consequently, it has been categorised like a Variant of Uncertain Significance.

This price is calculated by NCBI determined by knowledge from submitters. Read our procedures for calculating the assessment position. The number of submissions which add to this assessment position is shown in parentheses.

There is not any practical proof in ClinVar for this variation. When you have generated purposeful details for this variation, be sure to take into consideration submitting that facts to ClinVar.

The worldwide minimal allele frequency calculated because of the one thousand Genomes Project. The insignificant allele at this location is indicated in parentheses and should be various with the allele represented by this VCV document.

The situation for that classification, supplied by the submitter for this submitted (SCV) document. This column also contains the afflicted status and allele origin of people observed with this variant.

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There aren't any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, you should take into consideration publishing that details to ClinVar.

The volume of variants in ClinVar which have been contained within just this gene, with a hyperlink to look at the listing of variants.

These citations are recognized by LitVar utilizing the rs number, so They might include citations for more than one variant at this locale. Make sure you critique the LitVar final results diligently to your variant of fascination. Document final up-to-date May 19, 2024 

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Stars symbolize the aggregate evaluate standing, or the level of evaluate supporting the mixture germline classification for this VCV record.

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