5 Easy Facts About slot thr777 Described
5 Easy Facts About slot thr777 Described
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Stars stand for the critique status, or the extent of assessment supporting the submitted (SCV) record. This price is calculated by NCBI according to details with the submitter.
The volume of variants in ClinVar for this gene, together with lesser variants in the gene and bigger CNVs that overlap or fully include the gene.
ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the impact of sequence variations on RNA splicing propose this variant may possibly generate or strengthen a splice web-site. In summary, the obtainable proof is presently inadequate to ascertain the part of the variant in illness. Thus, it has been categorised like a Variant of Unsure Importance. OK
These citations are determined by LitVar using the rs number, so they may involve citations for multiple variant at this locale. You should overview the LitVar outcomes meticulously to your variant of desire. Document very last current May possibly 19, 2024
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The outcome of your variant on RNA or protein functionality, based upon experimental proof from submitters.
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