thr777 No Further a Mystery
thr777 No Further a Mystery
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The influence in the variant on RNA or protein operate, depending on experimental evidence from submitters.
This price is calculated by NCBI based upon data from submitters. Go through our procedures for calculating the review position. The number of submissions which contribute to this review standing is revealed in parentheses.
This day signifies the last time this VCV record was current. The update may be because of an update to on the list of included submitted information (SCVs), or as a result of an update that ClinVar built into the variant like including HGVS expressions or perhaps a rs amount.
The global minimal allele frequency calculated because of the a thousand Genomes Task. The minor allele at this site is indicated in parentheses and may be unique in the allele represented by this VCV record.
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The aggregate germline classification for this variant, normally to get a monogenic or Mendelian dysfunction as inside the ACMG/AMP rules, or for reaction to the drug. This benefit is calculated by NCBI according to knowledge from submitters. Examine our procedures for calculating the combination classification.
There isn't any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, be sure to consider submitting that information to ClinVar.
The number of variants in ClinVar which have been contained in this gene, by using a link to look at the list of variants.
These citations are identified by LitVar utilizing the rs selection, so they may include citations for multiple variant at this spot. Please review the LitVar benefits carefully on your variant of desire. Document previous up-to-date May 19, 2024
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Stars depict the combination overview standing, or the level of assessment supporting the aggregate germline classification for this VCV document.
The number of variants in ClinVar thr777 for this gene, such as smaller variants in the gene and larger CNVs that overlap or absolutely incorporate the gene.
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