The effect on the variant on RNA or protein functionality, dependant on experimental proof from submitters.

This worth is calculated by NCBI depending on information from submitters. Read our procedures for calculating the overview status. The volume of submissions which lead to this review standing is shown in parentheses.

This date represents the last time this VCV file was up-to-date. The update may be resulting from an update to one of the incorporated submitted data (SCVs), or resulting from an update that ClinVar made towards the variant including including HGVS expressions or possibly a rs range.

The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and will be various in the allele represented by this VCV history.

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There are no citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please consider publishing that information and facts to ClinVar.

The quantity of variants in ClinVar which can be contained within this gene, which has a backlink to check out the listing of variants.

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Aberrant 5' splice internet sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.

Stars symbolize thr777 the aggregate evaluate standing, or the level of critique supporting the mixture germline classification for this VCV record.

The website is safe. The https:// makes certain that you'll be connecting into the official Site Which any information you offer is encrypted and transmitted securely.

The location is protected. The https:// makes sure that you're connecting into the official Web-site Which any information you supply is encrypted and transmitted securely.

Stars characterize the critique standing, or the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI determined by info in the submitter.