What Does thr777 Mean?
What Does thr777 Mean?
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the outcome of sequence modifications on RNA splicing advise this variant may possibly create or strengthen a splice internet site. In summary, the readily available evidence is at this time insufficient to ascertain the role of this variant in disorder. Thus, it's been categorized as a Variant of Unsure Importance.
This worth is calculated by NCBI determined by information from submitters. Read our procedures for calculating the review standing. The number of submissions which lead to this overview position is revealed in parentheses.
There isn't a functional evidence in ClinVar for this variation. Should you have created functional details for this variation, make sure you contemplate distributing that info to ClinVar.
The global minor allele frequency calculated via the 1000 Genomes Job. The minimal allele at this location is indicated in parentheses and may be unique in the allele represented by this VCV history.
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The mixture germline classification for this variant, ordinarily for your monogenic or Mendelian ailment as inside the ACMG/AMP rules, or for response to some drug. This price is calculated by NCBI according to knowledge from submitters. Go through our rules for calculating the aggregate classification.
There won't be any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, remember to look at submitting that facts to ClinVar.
The submitting organization for this submitted (SCV) file. This column also consists of the SCV accession and Model amount, the day this SCV initial appeared in ClinVar, along thr777 with the day that this SCV was final up to date in ClinVar.
These citations are determined by LitVar using the rs variety, so They might involve citations for more than one variant at this site. Remember to assessment the LitVar final results diligently for the variant of fascination. Report previous current May well 19, 2024
Aberrant 5' splice internet sites in human condition genes: mutation pattern, nucleotide construction and comparison of computational instruments that predict their utilization.
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The number of variants in ClinVar for this gene, including more compact variants throughout the gene and bigger CNVs that overlap or completely incorporate the gene.
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