5 Easy Facts About thr777 Described
5 Easy Facts About thr777 Described
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The result on the variant on RNA or protein operate, dependant on experimental evidence from submitters.
This benefit is calculated by NCBI based on data from submitters. Browse our regulations for calculating the overview status. The volume of submissions which contribute to this overview status is shown in parentheses.
There is absolutely no useful evidence in ClinVar for this variation. In case you have produced practical info for this variation, remember to contemplate publishing that facts to ClinVar.
This column features additional information supporting the classification, which includes citations, the touch upon classification, and specific evidence furnished as observations on the variant through the submitter.
The situation with the classification, supplied by the submitter for this submitted (SCV) history. This column also involves the affected standing and allele origin of people noticed with this particular variant.
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There aren't any citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, make sure you consider submitting that info to ClinVar.
The volume of variants in ClinVar that are 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 variety, so They could incorporate citations for multiple variant at this area. Be sure to evaluation the LitVar effects cautiously on your variant of desire. Report last up to thr777 date May well 19, 2024
Aberrant 5' splice sites in human illness genes: mutation sample, nucleotide composition and comparison of computational applications that forecast their utilization.
Stars signify the combination overview status, or the extent of overview supporting the aggregate germline classification for this VCV history.
The volume of variants in ClinVar for this gene, which include smaller sized variants in the gene and bigger CNVs that overlap or entirely contain the gene.
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Stars represent the evaluation position, or the extent of overview supporting the submitted (SCV) file. This worth is calculated by NCBI depending on info in the submitter.