The smart Trick of login thr777 That No One is Discussing
The smart Trick of login thr777 That No One is Discussing
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively popular reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the influence of sequence alterations on RNA splicing suggest that this variant may make or reinforce a splice web-site. In summary, the obtainable proof is at present insufficient to determine the purpose of the variant in condition. Hence, it has been labeled to be a Variant of Uncertain Significance. Okay
These citations are determined by LitVar using the rs variety, so they may include things like citations for more than one variant at this spot. Please critique the LitVar benefits cautiously to your variant of desire. Record previous current Might 19, 2024
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This day signifies the last time this VCV record was updated. The update could be resulting from an update to among the list of incorporated submitted documents (SCVs), or as a consequence of an update that ClinVar made for the variant like adding HGVS expressions or perhaps a rs thr777 amount.
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There aren't any citations for germline classification of this variant in ClinVar. If you know of citations for this variation, be sure to take into consideration publishing that data to ClinVar.
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There isn't a purposeful evidence in ClinVar for this variation. In case you have created purposeful information for this variation, remember to consider submitting that info to ClinVar.