The Fact About thr777 That No One Is Suggesting
The Fact About thr777 That No One Is Suggesting
Blog Article
The impact on the variant on RNA or protein perform, dependant on experimental evidence from submitters.
This sequence alter impacts codon 777 of the GAA mRNA. It is just a 'silent' alter, this means that it doesn't change the encoded amino acid sequence of your GAA protein. This variant also falls at the final nucleotide of exon sixteen, and that is Component of the consensus splice web site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in individuals impacted with GAA-linked circumstances.
This day signifies the final time this VCV history was updated. The update can be as a result of an update to among the list of included submitted records (SCVs), or on account of an update that ClinVar designed into the variant like adding HGVS expressions or simply a rs number.
The global small allele frequency calculated because of the 1000 Genomes Project. The insignificant allele at this area is indicated in parentheses and should be different from the allele represented by this VCV history.
The situation with the classification, supplied by the submitter for this submitted (SCV) history. This column also involves the afflicted standing and allele origin of people observed using this variant.
The internet site is secure. The https:// makes certain that you're connecting on the Formal website and that any details you present is encrypted and transmitted securely.
Read through our principles for calculating the overview status. This column also includes a connection into the submitter’s assertion standards if presented, and the collection method.
The volume of variants in ClinVar which have been contained within just this gene, by using a connection to perspective the list of variants.
This website is using a safety provider to shield alone from online attacks. The action you just performed triggered the safety Alternative. There are lots of steps that would result in this block including submitting a specific term or phrase, a SQL command or malformed details.
Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
The website is protected. The https:// assures that you're connecting into the official website and that any information you present is encrypted and transmitted securely.
The amount of variants in ClinVar for this gene, including scaled-down variants within the gene and larger CNVs that overlap or absolutely have the gene.
You are able to e-mail the positioning proprietor to let them know you have been blocked. You should involve what you were performing when thr777 this webpage came up and also the Cloudflare Ray ID identified at the bottom of this page.
The website is protected. The https:// makes sure that you will be connecting on the official Web-site and that any information you give is encrypted and transmitted securely.