Little Known Facts About link thr777.
Little Known Facts About link thr777.
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This benefit is calculated by NCBI determined by data from submitters. Read through our rules for calculating the overview position. The amount of submissions which contribute to this overview position is shown in parentheses.
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The quantity of variants in ClinVar for this gene, which include scaled-down variants inside the gene and larger CNVs that overlap or absolutely comprise the gene.
ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively frequent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the influence of sequence alterations on RNA splicing suggest that this variant may make or reinforce a splice web page. In summary, the available evidence is now insufficient to find out the role of this variant in sickness. As a result, it's been classified like a Variant of Unsure Importance. Alright
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These citations are discovered by LitVar utilizing the rs selection, so They might include things like citations for multiple variant at this site. Be sure to review the LitVar results cautiously for the variant of curiosity. Document last updated May twelve, 2024
The publishing Firm for this submitted (SCV) file. This column also contains the SCV accession and version selection, the date this SCV first appeared in ClinVar, as well as day that this SCV was past up-to-date in ClinVar.
This column includes more details supporting the classification, like citations, the touch upon classification, and detailed evidence offered as observations with the variant by the submitter.
The volume of variants in ClinVar for this gene, which includes scaled-down variants within the gene and larger CNVs that overlap or thoroughly contain the gene.
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The combination germline classification for this variant, generally for the monogenic or link thr777 Mendelian disorder as in the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI dependant on data from submitters. Browse our procedures for calculating the combination classification.
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There is not any practical evidence in ClinVar for this variation. Should you have created functional info for this variation, you should consider submitting that knowledge to ClinVar.