The Single Best Strategy To Use For thr777
The Single Best Strategy To Use For thr777
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence modifications on RNA splicing recommend that this variant may perhaps create or reinforce a splice site. In summary, the out there proof is currently insufficient to find out the purpose of this variant in condition. As a result, it has been categorised for a Variant of Uncertain Significance.
This value is calculated by NCBI dependant on facts from submitters. Read through our principles for calculating the evaluation position. The amount of submissions which add to this overview status is demonstrated in parentheses.
This day signifies the final time this VCV document was up to date. The update may very well be resulting from an update to one of the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant for example incorporating HGVS expressions or simply a rs number.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and should be distinct in the allele represented by this VCV record.
The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people observed using this variant.
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There are no citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, be sure to look at distributing that data to ClinVar.
The volume of variants in ClinVar which are contained in just this gene, which has a backlink to watch the list of variants.
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Aberrant 5' splice internet sites in human illness genes: mutation pattern, nucleotide construction and comparison of computational resources that predict their utilization.
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The positioning is protected. The https:// assures that you are connecting on the Formal website and that any facts you offer is encrypted and transmitted securely.
The location is protected. The https:// ensures that you're connecting to your Formal website and that any info you give is encrypted and transmitted thr777 securely.
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