What Does thr777 Mean?
What Does thr777 Mean?
Blog Article
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the outcome of sequence improvements on RNA splicing suggest this variant may perhaps produce or fortify a splice internet site. In summary, the obtainable evidence is presently inadequate to ascertain the job of the variant in sickness. Thus, it's been labeled like a Variant of Unsure Importance.
This value is calculated by NCBI dependant on facts from submitters. Go through our rules for calculating the evaluate standing. The number of submissions which add to this assessment position is proven in parentheses.
This date signifies the final time this VCV history was updated. The update can be on account of an update to on the list of integrated submitted information (SCVs), or resulting from an update that ClinVar built to the variant including including HGVS expressions or possibly a rs range.
The worldwide minimal allele frequency calculated with the one thousand Genomes Venture. The minor allele at this location is indicated in parentheses and could be unique through the allele represented by this VCV document.
The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also consists of the afflicted status and allele origin of individuals noticed with this variant.
The aggregate germline classification for this variant, generally for your monogenic or Mendelian disorder as within the ACMG/AMP tips, or for response into a drug. This price is calculated by NCBI dependant on thr777 data from submitters. Study our principles for calculating the aggregate classification.
There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that info to ClinVar.
The amount of variants in ClinVar which are contained within this gene, that has a url to see the listing of variants.
These citations are identified by LitVar using the rs selection, so They might include citations for multiple variant at this locale. Please overview the LitVar benefits carefully for the variant of curiosity. File past updated May well 19, 2024
Aberrant 5' splice web sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational instruments that forecast their utilization.
Stars signify the combination critique position, or the level of critique supporting the combination germline classification for this VCV file.
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Stars signify the critique standing, or the extent of critique supporting the submitted (SCV) document. This value is calculated by NCBI dependant on info in the submitter.