thr777 No Further a Mystery
thr777 No Further a Mystery
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The influence from the variant on RNA or protein functionality, based upon experimental evidence from submitters.
This value is calculated by NCBI dependant on facts from submitters. Read through our principles for calculating the evaluation position. The quantity of submissions which contribute to this review position is proven in parentheses.
This date represents the last time this VCV file was current. The update could be due to an update to one of several bundled submitted documents (SCVs), or because of an update that ClinVar created to your variant which include introducing HGVS expressions or perhaps a rs quantity.
The global insignificant allele frequency calculated via the one thousand Genomes Task. The small allele at this place is indicated in parentheses and may be distinctive with the allele represented by this VCV file.
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Study our guidelines for calculating the evaluation position. This column also features a website link towards the submitter’s assertion criteria if delivered, and the gathering approach.
The number of variants in ClinVar that are contained in just this gene, with a website link to view the listing of variants.
These citations are recognized by LitVar utilizing the rs quantity, so they may include citations for more than one variant at this site. Please critique the LitVar success meticulously for your variant of curiosity. Report past updated Could 19, 2024
Aberrant 5' splice sites in human disorder genes: mutation sample, nucleotide structure and comparison of computational instruments that forecast their utilization.
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The internet site is protected. The https:// makes sure that you'll be connecting to your Formal Internet site and that any details you supply is encrypted and transmitted securely.
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