thr777 No Further a Mystery
thr777 No Further a Mystery
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The effect of the variant on RNA or protein functionality, dependant on experimental proof from submitters.
This worth is calculated by NCBI according to details from submitters. Examine our policies for calculating the assessment position. The quantity of submissions which contribute to this critique status is revealed in parentheses.
There is absolutely no useful proof in ClinVar for this variation. When you have produced useful knowledge for this variation, you should look at distributing that info to ClinVar.
This column consists of more info supporting the classification, which include citations, the comment on classification, and detailed evidence provided as observations with the variant with the submitter.
The situation with the classification, provided by the submitter for this submitted (SCV) history. This column also contains the afflicted status and allele origin of people noticed with this particular variant.
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There are no citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, remember to take into account distributing that details to ClinVar.
The submitting organization for this submitted (SCV) record. This column also features the SCV accession and Edition number, the date this SCV first appeared in ClinVar, plus the day that this SCV was past up to date in ClinVar.
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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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The quantity of variants in ClinVar for this gene, which includes lesser variants in the gene and bigger thr777 CNVs that overlap or completely comprise the gene.
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The positioning is secure. The https:// ensures that you are connecting into the Formal Web site and that any information and facts you present is encrypted and transmitted securely.