5 Simple Techniques For thr777
5 Simple Techniques For thr777
Blog Article
The effect of the variant on RNA or protein operate, depending on experimental proof from submitters.
This sequence adjust has an effect on codon 777 of the GAA mRNA. It is just a 'silent' adjust, indicating that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, that's A part of the consensus splice site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed inside the literature in men and women influenced with GAA-relevant circumstances.
This date signifies the last time this VCV document was up to date. The update can be because of an update to one of several incorporated submitted information (SCVs), or on account of an update that ClinVar manufactured for the variant like introducing HGVS expressions or a rs number.
The worldwide small allele frequency calculated from the a thousand Genomes Venture. The insignificant allele at this spot is indicated in parentheses and could be different with the allele represented by this VCV record.
The website is safe. The https:// guarantees that you will be connecting to the official thr777 Web site Which any info you present is encrypted and transmitted securely.
The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian problem as within the ACMG/AMP rules, or for reaction to the drug. This value is calculated by NCBI determined by knowledge from submitters. Read through our guidelines for calculating the aggregate classification.
There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, be sure to consider distributing that data to ClinVar.
The volume of variants in ClinVar that happen to be contained in this gene, using a url to view the listing of variants.
These citations are discovered by LitVar using the rs quantity, so They might include citations for more than one variant at this location. Remember to overview the LitVar final results carefully on your variant of curiosity. Document previous updated May 19, 2024
Aberrant 5' splice web-sites in human illness genes: mutation pattern, nucleotide construction and comparison of computational equipment that predict their utilization.
Stars represent the combination overview status, or the extent of overview supporting the combination germline classification for this VCV file.
The amount of variants in ClinVar for this gene, together with more compact variants within the gene and larger CNVs that overlap or absolutely have the gene.
You could email the website owner to let them know you had been blocked. Remember to include things like Anything you were being doing when this web page came up and also the Cloudflare Ray ID identified at the bottom of the web site.
The site is protected. The https:// makes sure that you'll be connecting to your official website Which any info you provide is encrypted and transmitted securely.