Top latest Five thr777 Urban news
Top latest Five thr777 Urban news
Blog Article
The result on the variant on RNA or protein perform, dependant on experimental evidence from submitters.
This sequence adjust impacts codon 777 in the GAA mRNA. It's a 'silent' alter, this means that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which happens to be part of the consensus splice web-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 people today impacted with GAA-linked conditions.
This date represents the last time this VCV report was current. The update could be due to an update to one of many incorporated submitted documents (SCVs), or due to an update that ClinVar created to your variant which include adding HGVS expressions or perhaps a rs amount.
This column consists of more information supporting the classification, together with citations, the comment on classification, and in-depth evidence offered as observations with the variant by the submitter.
The ailment for your classification, supplied by the submitter for this submitted (SCV) document. This column also incorporates the afflicted status and allele origin of people noticed using this type of variant.
The mixture germline classification for this variant, commonly for a monogenic or Mendelian condition as inside the ACMG/AMP rules, or for reaction to a drug. This worth is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate classification.
There aren't any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, be sure to contemplate distributing that facts to ClinVar.
The quantity of variants in ClinVar which have been contained within this gene, which has a url to view the list of variants.
This Web site is utilizing a safety service to safeguard itself from on the web assaults. The motion you merely executed triggered the security Remedy. There are various actions that would result in this block thr777 including submitting a specific term or phrase, a SQL command or malformed info.
Aberrant 5' splice web-sites in human disease genes: mutation sample, nucleotide composition and comparison of computational applications that forecast their utilization.
Stars characterize the aggregate review position, or the level of review supporting the mixture germline classification for this VCV document.
The volume of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or absolutely incorporate the gene.
The positioning is protected. The https:// makes certain that you are connecting for the official Web page Which any information and facts you offer is encrypted and transmitted securely.
The location is secure. The https:// ensures that you'll be connecting to your official website Which any info you give is encrypted and transmitted securely.