The influence of your variant on RNA or protein perform, based upon experimental evidence from submitters.
This price is calculated by NCBI based on info from submitters. Go through our guidelines for calculating the assessment position. The quantity of submissions which contribute to this evaluate standing is revealed in parentheses.
This date represents the final time this VCV history was current. The update may be resulting from an update to one of many integrated submitted records (SCVs), or resulting from an update that ClinVar produced for the variant for instance adding HGVS expressions or even a rs amount.
The worldwide slight allele frequency calculated via the 1000 Genomes Venture. The minor allele at this spot is indicated in parentheses and could be diverse with the allele represented by this VCV record.
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The aggregate germline classification for this variant, generally for your monogenic or Mendelian ailment as inside the ACMG/AMP tips, or for reaction to your drug. This price is calculated by NCBI according to details from submitters. Read our rules for calculating the aggregate classification.
Read through our policies for calculating the assessment standing. This column also features a connection into the submitter’s assertion thr777 standards if presented, and the collection method.
The submitting Group for this submitted (SCV) history. This column also contains the SCV accession and Edition quantity, the day this SCV initially appeared in ClinVar, plus the day that this SCV was previous up-to-date in ClinVar.
These citations are determined by LitVar using the rs variety, so They could incorporate citations for more than one variant at this area. You should evaluation the LitVar effects cautiously in your variant of fascination. History past up to date May well 19, 2024
Aberrant five' splice internet sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that predict their utilization.
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