The 2-Minute Rule for login thr777
The 2-Minute Rule for login thr777
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the result of sequence adjustments on RNA splicing advise that this variant may perhaps create or fortify a splice internet site. In summary, the accessible proof is at present inadequate to find out the function of the variant in illness. Therefore, it has been classified being a Variant of Uncertain Significance. (fewer)
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The distributing Firm for this submitted (SCV) document. This column also contains the SCV accession and Model variety, the date this SCV initial appeared in ClinVar, and also the day this SCV was last up-to-date in ClinVar.
This column consists of more information supporting the classification, like citations, the touch upon classification, and detailed evidence presented as observations of your variant from the submitter.
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The influence with the variant on RNA or protein purpose, based upon experimental evidence from submitters.
There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to take into consideration publishing that facts to ClinVar.
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