The 5-Second Trick For slot thr777
The 5-Second Trick For slot thr777
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the outcome of sequence alterations on RNA splicing recommend this variant may generate or fortify a splice web page. In summary, the out there proof is presently insufficient to determine the purpose of the variant in condition. As a result, it's been categorised for a Variant of Uncertain Importance. (considerably less)
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Aberrant five' splice sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational applications that predict their utilization.
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The publishing Group for this submitted (SCV) report. This column also involves the SCV accession and Edition quantity, the day this SCV initially appeared in ClinVar, plus the date this SCV was very last up to date in ClinVar.
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This date signifies the final time this VCV document was up-to-date. The update might be due to an update to one of several bundled submitted records (SCVs), or as a result of an update that ClinVar created to your variant such as adding HGVS expressions or even a rs range.
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This sequence transform influences codon 777 on the GAA mRNA. This is a 'silent' adjust, which means that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Element of the consensus splice web page for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed during the literature in persons impacted with GAA-associated conditions.
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