Top latest Five thr777 Urban news
Top latest Five thr777 Urban news
Blog Article
The impact from the variant on RNA or protein function, according to experimental proof from submitters.
This sequence improve influences codon 777 from the GAA mRNA. It's really a 'silent' adjust, meaning that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, and that is Element 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 claimed inside the literature in people today impacted with GAA-linked circumstances.
This date signifies the final time this VCV history was updated. The update could possibly be as a result of an update to on the list of integrated submitted information (SCVs), or resulting from an update that ClinVar made towards the variant including incorporating HGVS expressions or maybe a rs selection.
The global minor allele frequency calculated from the one thousand Genomes Undertaking. The small allele at this place is indicated in parentheses and could be distinctive with the allele represented by this VCV report.
The ailment 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 particular variant.
The location is secure. The https:// makes certain that you are connecting on the Formal Web-site Which any details you give is encrypted and transmitted securely.
Go through our principles for calculating the assessment status. This column also features a backlink on the submitter’s assertion requirements if supplied, and the gathering system.
The amount of variants in ClinVar that are contained inside of this gene, using a link to look at the listing of variants.
This Web page is employing a security support to safeguard alone from on-line assaults. The action you just carried out activated the safety solution. There are many actions that would set off this block like submitting a particular word or phrase, a SQL command or malformed details.
Aberrant five' splice internet sites in human sickness genes: mutation sample, nucleotide composition and comparison of computational instruments that forecast their utilization.
The website is protected. The https:// assures that you're connecting to the Formal Web site Which any info you deliver is encrypted and transmitted securely.
The quantity of variants in ClinVar for this gene, including scaled-down variants thr777 throughout the gene and larger CNVs that overlap or absolutely comprise the gene.
It is possible to electronic mail the positioning owner to let them know you were being blocked. You should include things like Everything you ended up accomplishing when this webpage came up as well as Cloudflare Ray ID identified at The underside of this web site.
Stars stand for the evaluation standing, or the level of assessment supporting the submitted (SCV) record. This worth is calculated by NCBI determined by info from your submitter.