The Fact About thr777 That No One Is Suggesting
The Fact About thr777 That No One Is Suggesting
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The number of variants in ClinVar which can be contained inside this gene, using a link to view the listing of variants.
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively typical reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the outcome of sequence modifications on RNA splicing recommend this variant might create or strengthen a splice site. In summary, the accessible proof is now inadequate to ascertain the job of the variant in illness. Therefore, it's been classified to be a Variant of Unsure Importance. (a lot less)
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Aberrant 5' splice internet sites in human ailment genes: mutation pattern, nucleotide framework and comparison of computational resources that forecast their utilization.
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The distributing Firm for this submitted (SCV) document. This column also consists of the SCV accession and Variation range, the day this SCV first appeared in ClinVar, and the date this SCV was very last current in ClinVar.
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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, make sure you think about publishing that facts to ClinVar.
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