thr777 Options

thr777 Options

Blog Article

ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the result of sequence changes on RNA splicing counsel that this variant might create or strengthen a splice site. In summary, the offered evidence is at this time insufficient to determine the part of the variant in disorder. Thus, it's been labeled being a Variant of Uncertain Importance.

This worth is calculated by NCBI according to data from submitters. Browse our regulations for calculating the overview status. The volume of submissions which lead to this review standing is shown in parentheses.

There's no practical evidence in ClinVar for this variation. When you have generated functional facts for this variation, remember to take into consideration publishing that facts to ClinVar.

The worldwide slight allele frequency calculated through the one thousand Genomes Task. The slight allele at this locale is indicated in parentheses and could be diverse through the allele represented by this VCV document.

The condition for your classification, supplied by the submitter for this submitted (SCV) file. This column also incorporates the afflicted position and allele origin of people noticed with this particular variant.

The internet site is secure. The https:// assures that you are connecting on the Formal Web-site Which any details you give is encrypted and transmitted securely.

Read our principles thr777 for calculating the evaluate status. This column also includes a website link on the submitter’s assertion requirements if supplied, and the gathering system.

The submitting Group for this submitted (SCV) document. This column also includes the SCV accession and Model quantity, the day this SCV to start with appeared in ClinVar, and the date this SCV was last up-to-date in ClinVar.

These citations are identified by LitVar utilizing the rs number, so They might involve citations for more than one variant at this site. Make sure you critique the LitVar results carefully to your variant of desire. History last updated May possibly 19, 2024 

The positioning is protected. The https:// ensures that you are connecting for the official website Which any information you provide is encrypted and transmitted securely.

The positioning is safe. The https:// makes sure that you are connecting for the official Internet site and that any facts you deliver is encrypted and transmitted securely.

The number of variants in ClinVar for this gene, which includes scaled-down variants in the gene and larger CNVs that overlap or totally incorporate the gene.

The internet site is secure. The https:// guarantees that you will be connecting to the official Site and that any data you present is encrypted and transmitted securely.

The internet site is safe. The https:// ensures that you are connecting for the official Web-site and that any facts you give is encrypted and transmitted securely.