The effect from the variant on RNA or protein function, depending on experimental evidence from submitters.
This price is calculated by NCBI dependant on information from submitters. Study our rules for calculating the review standing. The quantity of submissions which add to this evaluation standing is demonstrated in parentheses.
There isn't any useful proof in ClinVar for this variation. If you have produced functional info for this variation, you should look at distributing that info to ClinVar.
The global minor allele frequency calculated by the a thousand Genomes Task. The minor allele at this site is indicated in parentheses and may be diverse through the allele represented by this VCV document.
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There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to look at distributing that details to ClinVar.
The amount of variants in ClinVar which can be contained inside this gene, with a connection to look at the list of variants.
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Aberrant five' splice websites in human disorder genes: mutation sample, nucleotide construction and comparison of computational equipment that forecast their utilization.
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The quantity of variants in ClinVar for this gene, such as lesser variants inside the gene and bigger CNVs that overlap or fully incorporate the gene.
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