Indicators on thr777 You Should Know
Indicators on thr777 You Should Know
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The outcome of your variant on RNA or protein functionality, based on experimental proof from submitters.
This benefit is calculated by NCBI based upon data from submitters. Read our policies for calculating the evaluation status. The quantity of submissions which add to this critique status is shown in parentheses.
There isn't a purposeful proof in ClinVar for this variation. If you have produced purposeful information for this variation, make sure you contemplate submitting that information to ClinVar.
This column involves more details supporting the classification, including citations, the touch upon classification, and in depth proof offered as observations in the variant from the submitter.
The situation for your classification, furnished by the submitter for this submitted (SCV) history. This column also contains the affected standing and allele origin of people observed using this variant.
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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, make sure you take into account publishing that information and facts to ClinVar.
The volume of variants in ClinVar which have been contained inside of this gene, with a link to watch the list of variants.
These citations are discovered by LitVar using the rs range, so They could involve citations for more than one variant at this site. Please evaluate the LitVar final results carefully to your variant of fascination. Record previous updated May possibly 19, 2024
Aberrant 5' splice websites in human disorder genes: mutation pattern, nucleotide framework and comparison of computational instruments that predict their utilization.
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The volume of variants in ClinVar for this gene, like smaller variants in the gene and bigger CNVs that overlap or fully include the gene.
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