Little Known Facts About thr777.

ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the influence of sequence modifications on RNA splicing recommend that this variant might develop or bolster a splice internet site. In summary, the available proof is now inadequate to determine the role of the variant in sickness. Hence, it's been categorized as being a Variant of Unsure Significance.

This value is calculated by NCBI depending on info from submitters. Browse our principles for calculating the evaluation standing. The quantity of submissions which add to this review status is shown in parentheses.

There is no functional proof in ClinVar for this variation. If you have created useful facts for this variation, you should look at distributing that info to ClinVar.

The global minor allele frequency calculated by the a thousand Genomes Task. The slight allele at this area is indicated in parentheses and will be distinct in the allele represented by this VCV record.

The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also consists of the influenced status and allele origin of individuals noticed with this variant.

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There are no citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that facts to ClinVar.

The volume of variants in ClinVar that happen to be contained in this gene, using a link to watch the list of variants.

These citations are discovered by LitVar using the rs variety, so They could contain citations for multiple variant at this location. Remember to evaluate the LitVar final results diligently for the variant of curiosity. Report last updated May possibly 19, 2024 

Aberrant 5' splice sites in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.

The internet site is safe. The https:// ensures that you'll be connecting on the Formal Web-site and that any information you give is encrypted and thr777 transmitted securely.

The number of variants in ClinVar for this gene, together with smaller sized variants throughout the gene and larger CNVs that overlap or entirely contain the gene.

The internet site is protected. The https:// guarantees you are connecting into the official Internet site Which any facts you provide is encrypted and transmitted securely.

Stars characterize the critique standing, or the level of evaluate supporting the submitted (SCV) record. This benefit is calculated by NCBI based on details within the submitter.