Not known Facts About thr777

Not known Facts About thr777

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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the impact of sequence changes on RNA splicing recommend that this variant might develop or bolster a splice internet site. In summary, the available evidence is presently insufficient to ascertain the purpose of the variant in ailment. Thus, it has been classified to be a Variant of Unsure Significance.

This value is calculated by NCBI dependant on data from submitters. Examine our guidelines for calculating the critique position. The volume of submissions which contribute to this evaluate standing is revealed in parentheses.

There's no practical evidence in ClinVar for this variation. For those who have produced useful knowledge for this variation, remember to look at distributing that info to ClinVar.

This column includes more info supporting the classification, which include citations, the comment on classification, and in-depth evidence provided as observations with the variant because of the submitter.

The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people observed using this variant.

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There won't be any citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, remember to contemplate distributing that information to ClinVar.

The amount of variants in ClinVar which are contained within this gene, which has a hyperlink to perspective the list of variants.

These citations are identified by LitVar using the rs range, so they may involve citations for more than one variant at this spot. Please overview the LitVar effects meticulously for your variant of curiosity. File past updated Could 19, 2024 

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Stars stand for the mixture critique position, or the level of evaluate supporting the combination germline classification for this VCV record.

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The internet site is safe. The https:// makes certain you are connecting for the official Site and that any facts you provide is encrypted and transmitted securely.

The internet site is safe. The https:// guarantees that you are connecting into the Formal Web site Which any data you supply is encrypted and transmitted securely.