5 Easy Facts About thr777 Described
5 Easy Facts About thr777 Described
Blog Article
ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the effect of sequence alterations on RNA splicing advise this variant may well build or strengthen a splice website. In summary, the available proof is at this time insufficient to ascertain the role of the variant in disorder. As a result, it's been labeled like a Variant of Unsure Significance.
This sequence transform impacts codon 777 of your GAA mRNA. It is just a 'silent' alter, this means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people today affected with GAA-relevant conditions.
There is no functional proof in ClinVar for this variation. If you have created purposeful details for this variation, be sure to take into consideration publishing that facts to ClinVar.
The worldwide small allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and should be distinct from your allele represented by this VCV record.
The internet site is safe. The https:// makes sure that you are connecting for the official Web page Which any facts you supply is encrypted thr777 and transmitted securely.
The website is safe. The https:// makes sure that you're connecting to your Formal Web site and that any details you present is encrypted and transmitted securely.
There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please think about submitting that information to ClinVar.
The publishing organization for this submitted (SCV) history. This column also involves the SCV accession and version range, the day this SCV initial appeared in ClinVar, and the date this SCV was very last up-to-date in ClinVar.
These citations are identified by LitVar utilizing the rs range, so They could involve citations for multiple variant at this spot. Please overview the LitVar results thoroughly for the variant of curiosity. Report last up to date May possibly 19, 2024
The positioning is safe. The https:// guarantees that you are connecting to the Formal Internet site and that any info you provide is encrypted and transmitted securely.
The location is protected. The https:// assures that you're connecting to the official website and that any info you present 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.
The positioning is protected. The https:// makes sure that you're connecting on the Formal Web-site Which any information you supply is encrypted and transmitted securely.
Stars represent the review position, or the extent of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on data within the submitter.