What Does thr777 Mean?
What Does thr777 Mean?
Blog Article
The result in the variant on RNA or protein perform, depending on experimental evidence from submitters.
This sequence adjust affects codon 777 with the GAA mRNA. This is a 'silent' change, that means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's Section of the consensus splice web-site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been described inside the literature in men and women impacted with GAA-connected situations.
This date represents the last time this VCV report was updated. The update may very well be on account of an update to one of the incorporated submitted records (SCVs), or on account of an update that ClinVar designed to the variant like including HGVS expressions or possibly a rs selection.
This column incorporates more details supporting the classification, such as citations, the touch upon classification, and thorough evidence furnished as observations in the variant by the submitter.
The ailment to the classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced standing and allele origin of individuals noticed with this variant.
The combination germline classification for this variant, typically for any monogenic or Mendelian problem as in the ACMG/AMP pointers, or for response into a drug. This benefit is calculated by NCBI depending on facts from submitters. Browse our guidelines for calculating the aggregate classification.
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 account distributing that details to ClinVar.
The amount of variants in ClinVar which are contained within this gene, which has a url to check out the listing of variants.
These citations are identified by LitVar using the rs selection, so they may involve citations for more than thr777 one variant at this spot. Please assessment the LitVar success very carefully for your personal variant of interest. File very last current Might 19, 2024
Aberrant five' splice web pages in human disease genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
The site is safe. The https:// guarantees that you'll be connecting to the official website and that any details you offer is encrypted and transmitted securely.
The volume of variants in ClinVar for this gene, like smaller variants in the gene and larger CNVs that overlap or absolutely have the gene.
You may electronic mail the internet site operator to allow them to know you were being blocked. Please consist of Whatever you have been undertaking when this site arrived up plus the Cloudflare Ray ID observed at The underside of this web page.
Stars signify the evaluation status, or the extent of evaluation supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on details from your submitter.