The impact from the variant on RNA or protein function, according to experimental proof from submitters.
This price is calculated by NCBI depending on information from submitters. Read our procedures for calculating the overview status. The number of submissions which lead to this evaluation position is proven in parentheses.
This date represents the final time this VCV file was current. The update could be as a consequence of an update to among the incorporated submitted information (SCVs), or because of an update that ClinVar created towards the variant including adding HGVS expressions or simply a rs range.
The worldwide insignificant allele frequency calculated through the 1000 Genomes Job. The small allele at this place is indicated in parentheses and should be distinctive with the allele represented by this VCV document.
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The combination germline classification for this variant, normally for the monogenic or Mendelian ailment as within the ACMG/AMP suggestions, or for response into a drug. This price is calculated by NCBI based upon data from submitters. Read our guidelines for calculating the aggregate classification.
Study our guidelines for calculating the review position. This column also includes a website link towards the submitter’s assertion conditions if furnished, and the collection technique.
The number of variants in ClinVar which have been contained within just this gene, by using a hyperlink to perspective the list of variants.
These citations are determined by LitVar utilizing the rs amount, so They could contain citations for multiple variant at this place. Be sure to evaluation the LitVar effects cautiously in your variant of desire. Document very last current Might 19, 2024
Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
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