How link alternatif thr777 can Save You Time, Stress, and Money.
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The number of variants in ClinVar for this gene, which include more compact variants throughout the gene and bigger CNVs that overlap or fully consist of the gene.
ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively frequent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the outcome of sequence improvements on RNA splicing recommend that this variant could create or fortify a splice internet site. In summary, the accessible proof is at the moment insufficient to find out the function of the variant in illness. For that reason, it has been categorized like a Variant of Unsure Significance. Alright
These citations are discovered by LitVar utilizing the rs range, so They might include citations for more than one variant at this site. Make sure you evaluation the LitVar final results thoroughly for the variant of curiosity. Report last up-to-date May perhaps 19, 2024
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and Variation range, the date this SCV initial appeared in ClinVar, and also the day that this SCV was last current in ClinVar.
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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that info to ClinVar.
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