The result with the variant on RNA or protein purpose, depending on experimental evidence from submitters.
This benefit is calculated by NCBI based on details from submitters. Examine our principles for calculating the evaluate position. The quantity of submissions which contribute to this assessment position is demonstrated in parentheses.
This date represents the final time this VCV record was updated. The update might be as a consequence of an update to on the list of integrated submitted records (SCVs), or on account of an update that ClinVar designed on the variant like adding HGVS expressions or even a rs variety.
This column incorporates more details supporting the classification, such as citations, the touch upon classification, and comprehensive proof provided as observations with the variant with the submitter.
The situation for that classification, provided by the submitter for this submitted (SCV) file. This column also contains the impacted standing and allele origin of people noticed using this variant.
The mixture germline classification for this variant, commonly to get a monogenic or Mendelian problem as inside the ACMG/AMP recommendations, or for reaction to a drug. This price is calculated by NCBI according to facts from submitters. Browse our procedures for calculating the aggregate classification.
There won't be any citations for germline classification of this variant in ClinVar. If you already know of citations thr777 for this variation, be sure to contemplate submitting that info to ClinVar.
The amount of variants in ClinVar which can be contained in just this gene, with a link to see the listing of variants.
These citations are identified by LitVar using the rs selection, so They could consist of citations for more than one variant at this site. Make sure you evaluation the LitVar benefits carefully to your variant of fascination. Document very last up-to-date May 19, 2024
Aberrant five' splice websites in human disease genes: mutation pattern, nucleotide construction and comparison of computational instruments that forecast their utilization.
Stars depict the mixture overview position, or the level of assessment supporting the mixture germline classification for this VCV report.
The volume of variants in ClinVar for this gene, together with smaller sized variants throughout the gene and larger CNVs that overlap or absolutely have the gene.
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