ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a relatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the influence of sequence variations on RNA splicing propose this variant might develop or fortify a splice site. In summary, the available evidence is now insufficient to find out the function of this variant in sickness. For that reason, it's been categorised for a Variant of Uncertain Significance.
This sequence improve has an effect on codon 777 with the GAA mRNA. It is just a 'silent' modify, meaning that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, and that is part of the consensus splice web page for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented inside the literature in individuals influenced with GAA-similar ailments.
This day represents the final time this VCV document was up to date. The update might be due to an update to among the list of bundled submitted records (SCVs), or as a result of an update that ClinVar designed into the variant such as adding HGVS expressions or a rs amount.
The worldwide slight allele frequency calculated by the 1000 Genomes Job. The minimal allele at this location is indicated in parentheses and will be distinctive through the allele represented by this VCV document.
The positioning is secure. The https:// ensures that you are connecting to your official Web page and that any information you provide is encrypted and transmitted securely.
The internet thr777 site is safe. The https:// ensures that you will be connecting for the Formal Site and that any info you deliver is encrypted and transmitted securely.
There are no citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, you should take into account submitting that details to ClinVar.
The submitting Business for this submitted (SCV) document. This column also incorporates the SCV accession and Edition selection, the date this SCV first appeared in ClinVar, plus the date that this SCV was past up to date in ClinVar.
This Internet site is utilizing a protection services to protect itself from on the web assaults. The motion you only executed triggered the security Remedy. There are several actions that might induce this block together with publishing a specific phrase or phrase, a SQL command or malformed knowledge.
The site is protected. The https:// makes certain that you will be connecting on the official Web site Which any facts you present is encrypted and transmitted securely.
The site is safe. The https:// guarantees that you are connecting to your official Web page and that any facts you supply is encrypted and transmitted securely.
The number of variants in ClinVar for this gene, which include smaller sized variants in the gene and bigger CNVs that overlap or entirely contain the gene.
You may e mail the location owner to let them know you were blocked. Make sure you incorporate That which you ended up accomplishing when this page arrived up and the Cloudflare Ray ID found at The underside of the website page.
Stars characterize the critique standing, or the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on facts with the submitter.