thr777 Options
thr777 Options
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the result of sequence changes on RNA splicing recommend that this variant could generate or improve a splice web-site. In summary, the available proof is currently inadequate to find out the position of the variant in disorder. Thus, it has been classified as a Variant of Unsure Significance.
This worth is calculated by NCBI depending on info from submitters. Study our rules for calculating the evaluate standing. The number of submissions which lead to this evaluation standing is proven in parentheses.
There is absolutely no practical evidence in ClinVar for this variation. For those who have generated functional data for this variation, please consider publishing that details to ClinVar.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and may be distinctive with the allele represented by this VCV history.
The situation with the classification, provided by the submitter for this submitted (SCV) history. This column also contains the afflicted status and allele origin of people noticed with this variant.
The combination germline classification for this variant, usually for any monogenic or Mendelian dysfunction as during the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI depending on knowledge from submitters. Examine our guidelines for calculating the aggregate classification.
Examine our regulations for calculating the overview standing. This column also features a connection to your submitter’s assertion requirements if supplied, and the gathering system.
The distributing organization for this submitted (SCV) record. This column also involves the SCV accession and Model selection, the day this SCV initial appeared in ClinVar, and the date this SCV was final up-to-date in ClinVar.
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