Indicators on thr777 You Should Know
Indicators on thr777 You Should Know
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The impact from the variant on RNA or protein function, depending on experimental evidence from submitters.
This benefit is calculated by NCBI dependant on facts from submitters. Read through our principles for calculating the evaluation position. The number of submissions which add to this assessment position is demonstrated in parentheses.
This date represents the final time this VCV history was up to date. The update may very well be on account of an update to one of the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar made for the variant for example incorporating HGVS expressions or simply a rs number.
This column involves more information supporting the classification, including citations, the touch upon classification, and in depth proof offered as observations of the variant via the submitter.
The affliction for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of individuals observed using this type of variant.
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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, please think about submitting that information to ClinVar.
The volume of variants in ClinVar which have been contained within just this gene, using a hyperlink to view the list of variants.
These citations are determined by LitVar utilizing the rs quantity, so they may involve citations for multiple variant at this place. Make sure you evaluate the LitVar final results diligently to your variant of desire. Record final up-to-date May perhaps 19, 2024
Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.
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The number of variants in ClinVar for this gene, which includes scaled-down variants within the gene and larger CNVs that overlap or completely incorporate thr777 the gene.
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