thr777 Secrets
thr777 Secrets
Blog Article
ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively typical cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the result of sequence improvements on RNA splicing counsel this variant may possibly generate or improve a splice web-site. In summary, the accessible proof is presently insufficient to determine the position of the variant in disorder. Hence, it's been categorized like a Variant of Uncertain Importance.
This value is calculated by NCBI according to information from submitters. Read our rules for calculating the evaluate position. The volume of submissions which contribute to this critique standing is shown in parentheses.
This date signifies the last time this VCV file was current. The update could be due to an update to one of the provided submitted data (SCVs), or because of an update that ClinVar built towards the variant for instance adding HGVS expressions or even a rs variety.
This column includes more info supporting the classification, like citations, the comment on classification, and detailed proof presented as observations from the variant by the submitter.
The internet site is safe. The https:// ensures that you'll be connecting to your Formal Web site and that any information you deliver is encrypted and transmitted securely.
The aggregate germline classification for this variant, normally for your monogenic or Mendelian ailment as in the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. Browse our rules for calculating the combination classification.
There are no citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, be sure to take into account publishing that information and facts to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, with a connection to look at the list of variants.
These citations are recognized by LitVar utilizing the rs quantity, so They might include citations for more than one variant at this site. Make sure you critique the LitVar results meticulously for your variant of curiosity. Report past updated Could 19, 2024
Aberrant five' splice web-sites in human disorder genes: mutation sample, nucleotide construction and comparison of computational resources that predict their utilization.
The location is secure. The https:// makes sure you are connecting towards the Formal Web site Which any info you deliver 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.
It is possible to electronic mail the site proprietor to let them know you have been blocked. You should involve what you were performing when this website page arrived up as well as Cloudflare Ray ID uncovered at The underside of this thr777 webpage.
The website is secure. The https:// makes sure that you will be connecting for the Formal Web page and that any information you present is encrypted and transmitted securely.