The Single Best Strategy To Use For thr777
The Single Best Strategy To Use For thr777
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence improvements on RNA splicing counsel this variant may produce or reinforce a splice web site. In summary, the readily available proof is at the moment insufficient to determine the function of the variant in sickness. Hence, it's been categorized as being a Variant of Unsure Significance.
This worth is calculated by NCBI according to data from submitters. Browse our principles for calculating the evaluation position. The amount of submissions which add to this overview status is demonstrated in parentheses.
There's no practical proof in ClinVar for this variation. If you have created purposeful details for this variation, please think about publishing that details to ClinVar.
This column consists of more information supporting the classification, together with citations, the comment on classification, and comprehensive evidence delivered as observations of your variant from the submitter.
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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, you should think about publishing that facts to ClinVar.
The number of variants in ClinVar which have been contained within just this gene, by using a website link to see the listing of variants.
These citations are discovered by LitVar using the rs number, so They might include citations for more than one variant at this site. Make sure you critique the LitVar outcomes thoroughly for the variant of curiosity. Report last up to date May well 19, 2024
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Stars symbolize the aggregate thr777 evaluate standing, or the level of evaluate supporting the mixture germline classification for this VCV record.
The amount of variants in ClinVar for this gene, including scaled-down variants within the gene and larger CNVs that overlap or absolutely incorporate the gene.
The site is secure. The https:// assures that you'll be connecting for the official Web page Which any information and facts you offer is encrypted and transmitted securely.
Stars characterize the critique standing, or the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on facts with the submitter.