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Stars depict the aggregate evaluate status, or the extent of evaluation supporting the combination germline classification for this VCV file.
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The number of variants in ClinVar for this gene, which include lesser variants inside the gene and bigger CNVs that overlap or absolutely have the gene.
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03%). This variant has not been claimed while in the literature in people afflicted with GAA-connected conditions. ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the influence of sequence adjustments on RNA splicing counsel that this variant may possibly create or bolster a splice web page. In summary, the offered proof is currently insufficient to find out the job of this variant in condition. Hence, link alternatif thr777 it's been classified being a Variant of Unsure Importance. Alright