thr777 Options
thr777 Options
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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 evaluate standing. The number of submissions which contribute to this assessment status is shown in parentheses.
This date represents the last time this VCV report was current. The update might be due to an update to one of several involved submitted documents (SCVs), or because of an update that ClinVar created to your variant which include introducing HGVS expressions or a rs quantity.
This column consists of more info supporting the classification, like citations, the touch upon classification, and detailed evidence supplied as observations of the variant through the submitter.
The problem to the classification, supplied by the submitter for this submitted (SCV) document. This column also consists of the afflicted status and allele origin of individuals observed with this variant.
The aggregate germline classification for this variant, generally for a monogenic or Mendelian condition as during the ACMG/AMP recommendations, or for response to a drug. This price is calculated by NCBI dependant on data from submitters. Study our principles for calculating the aggregate classification.
Go through our principles for calculating the review position. This column also features a url on the submitter’s assertion requirements if presented, and the gathering system.
The submitting Group for this submitted (SCV) file. This column also involves the SCV accession and Variation variety, the date this SCV 1st appeared in ClinVar, and the date that this SCV was previous up to date in ClinVar.
These citations are determined by LitVar using the rs quantity, so They might contain citations for more than one variant at this locale. Please evaluate the LitVar success cautiously for your variant of thr777 fascination. Record past up to date Could 19, 2024
Aberrant 5' splice sites in human ailment genes: mutation sample, nucleotide framework and comparison of computational tools that forecast their utilization.
Stars represent the combination overview status, or the extent of overview supporting the aggregate germline classification for this VCV history.
The number of variants in ClinVar for this gene, which include more compact variants throughout the gene and larger CNVs that overlap or thoroughly contain the gene.
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