A Simple Key For thr777 Unveiled
A Simple Key For thr777 Unveiled
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The impact from the variant on RNA or protein function, according to experimental proof from submitters.
This benefit is calculated by NCBI dependant on facts from submitters. Read our procedures for calculating the critique status. The volume of submissions which lead to this evaluation position is shown in parentheses.
There is no functional proof in ClinVar for this variation. If you have created purposeful facts for this variation, you should take into consideration publishing that knowledge to ClinVar.
This column involves more details supporting the classification, such as citations, the touch upon classification, and in depth proof presented as observations from the variant via the submitter.
The affliction for your classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced position and allele origin of individuals noticed with this variant.
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There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to contemplate submitting that info to ClinVar.
The volume of variants in ClinVar which might be contained inside of this gene, having a connection to watch the list of variants.
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Aberrant five' splice internet sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
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The volume of variants in ClinVar for this gene, like smaller variants in the gene and bigger CNVs that overlap or completely contain the gene.
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The location is secure. The https:// ensures that you'll be connecting to your official website Which any details you provide is encrypted and transmitted securely.