thr777 Secrets
thr777 Secrets
Blog Article
The outcome with the variant on RNA or protein function, depending on experimental proof from submitters.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' modify, 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 16, that is Portion of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in people influenced with GAA-similar situations.
This day signifies the final time this VCV record was up to date. The update may very well be as a result of an update to one of the provided submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant for instance incorporating HGVS expressions or simply a rs number.
The worldwide slight allele frequency calculated through the 1000 Genomes Undertaking. The small allele at this site is indicated in parentheses and should be distinctive from the allele represented by this VCV report.
The location is safe. The https:// makes sure that you'll be connecting into the official Internet site Which any info you supply is encrypted and transmitted securely.
The location is safe. The https:// makes sure that you will be connecting to the official Web page Which any data you provide is encrypted and transmitted securely.
There are no 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 publishing Business for this submitted (SCV) history. This column also incorporates the SCV accession and version selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
These citations are discovered by LitVar using the rs variety, so They could contain citations for multiple variant at this place. You should review the LitVar benefits carefully on your variant of desire. Document previous up-to-date Could 19, 2024
The website is secure. The https:// ensures that you are connecting into the Formal Site and that any information you provide is encrypted and transmitted securely.
Stars stand for the combination overview status, or the extent of assessment supporting the aggregate germline classification for this VCV report.
The number of variants in ClinVar for this gene, which includes smaller sized variants in the gene and bigger CNVs that overlap or entirely contain the gene.
The positioning is safe. The https:// makes sure that you're connecting on the Formal Web page Which any information you supply is encrypted and transmitted securely.
The website is secure. The https:// makes sure that you will be connecting for the official Web page and that any information you thr777 deliver is encrypted and transmitted securely.