Examine This Report on thr777
Examine This Report on thr777
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The amount of variants in ClinVar that are contained in this gene, which has a link to see the list of variants.
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the result of sequence modifications on RNA splicing counsel that this variant might create or reinforce a splice web page. In summary, the obtainable evidence is at the moment insufficient to determine the purpose of the variant in disorder. Thus, it has been categorized like a Variant of Uncertain Significance. (significantly less)
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The impact of your variant on RNA or protein perform, dependant on experimental evidence from submitters.
There aren't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to take into consideration publishing that data to ClinVar.
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