The result of your variant on RNA or protein perform, based upon experimental proof from submitters.
This benefit is calculated by NCBI depending on details from submitters. Browse our rules for calculating the evaluation position. The quantity of submissions which lead to this evaluate position is shown in parentheses.
This day signifies the final time this VCV history was updated. The update can be as a result of an update to on the list of integrated submitted information (SCVs), or on account of an update that ClinVar built to the variant including including HGVS expressions or possibly a rs range.
The global minor allele frequency calculated by the a thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be distinctive with the allele represented by this VCV file.
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There isn't any citations for germline classification of the variant thr777 in ClinVar. If you already know of citations for this variation, you should take into consideration distributing that data to ClinVar.
The amount of variants in ClinVar which are contained within this gene, which has a backlink to check out the listing of variants.
These citations are discovered by LitVar using the rs range, so they may incorporate citations for multiple variant at this place. You should review the LitVar benefits carefully on your variant of desire. Record final up to date May well 19, 2024
Aberrant 5' splice websites in human condition genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
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