The influence with the variant on RNA or protein operate, dependant on experimental proof from submitters.
This worth is calculated by NCBI according to data from submitters. Examine our regulations for calculating the overview position. The quantity of submissions which contribute to this evaluate status is revealed in parentheses.
There isn't a purposeful proof in ClinVar for this variation. Should you have produced useful knowledge for this variation, remember to take into account distributing that info to ClinVar.
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 within the allele represented by this VCV report.
The issue for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted standing and allele origin of individuals noticed with this variant.
The aggregate germline classification for this variant, normally for any monogenic or Mendelian dysfunction as within the ACMG/AMP pointers, or for response to some drug. This worth is calculated by NCBI dependant on data from submitters. Read through our rules for calculating the mixture classification.
There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, you should consider submitting that facts to ClinVar.
The number of variants in ClinVar which can be thr777 contained inside this gene, having a url to see the listing of variants.
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Aberrant 5' splice web sites in human ailment genes: mutation pattern, nucleotide framework and comparison of computational applications that forecast their utilization.
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Stars stand for the review position, or the level of assessment supporting the submitted (SCV) file. This worth is calculated by NCBI based on information through the submitter.