The smart Trick of thr777 That No One is Discussing
The smart Trick of thr777 That No One is Discussing
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The outcome of your variant on RNA or protein purpose, according to experimental proof from submitters.
This price is calculated by NCBI depending on information from submitters. Read our policies for calculating the overview status. The volume of submissions which lead to this review standing is shown in parentheses.
This day signifies the final time this VCV file was updated. The update could possibly be because of an update to among the list of included submitted records (SCVs), or as a result of an update that ClinVar designed into the variant such as adding HGVS expressions or perhaps a rs amount.
The worldwide minimal allele frequency calculated because of the 1000 Genomes Project. The minor allele at this locale is indicated in parentheses and should be diverse from your allele represented by this VCV document.
The issue with the classification, supplied by the submitter for this submitted (SCV) record. This column also involves the impacted position and allele origin of people noticed with this particular variant.
The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian condition as in the ACMG/AMP suggestions, or for response to some drug. This price is calculated by NCBI based upon details from submitters. Examine our procedures for calculating the combination classification.
There are no citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that info to ClinVar.
The number of variants in ClinVar that are contained within this gene, which has a website link to check out the listing of variants.
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Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide construction and comparison of computational equipment that predict thr777 their utilization.
Stars represent the combination overview status, or the extent of critique supporting the mixture germline classification for this VCV record.
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