An Unbiased View of thr777

An Unbiased View of thr777

Blog Article

The impact on the variant on RNA or protein operate, based upon experimental evidence from submitters.

This sequence adjust affects codon 777 with the GAA mRNA. It is just a 'silent' modify, this means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be Element of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in persons affected with GAA-relevant conditions.

This date signifies the final time this VCV report was updated. The update may be resulting from an update to one of several involved submitted documents (SCVs), or as a consequence of an update that ClinVar produced for the variant like incorporating HGVS expressions or possibly a rs quantity.

The global minor allele frequency calculated by the a thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be distinctive within the allele represented by this VCV report.

The issue for the classification, supplied by the submitter for this submitted (SCV) history. This column also involves the afflicted status and allele origin of people noticed with this particular variant.

The internet site is protected. The https:// makes sure you are connecting to the official website Which any information you offer is encrypted and transmitted securely.

Read our procedures for calculating the evaluate position. This column also features a backlink to the submitter’s assertion requirements if delivered, and the collection technique.

The submitting Business for this submitted (SCV) record. This column also includes the SCV accession and version range, the day this SCV very first appeared thr777 in ClinVar, as well as day this SCV was very last up to date in ClinVar.

These citations are recognized by LitVar using the rs variety, so They might involve citations for multiple variant at this area. You should assessment the LitVar effects meticulously to your variant of curiosity. Report previous updated May perhaps 19, 2024 

The positioning is protected. The https:// ensures you are connecting into the Formal Web site and that any information and facts you deliver is encrypted and transmitted securely.

Stars depict the combination overview standing, or the extent of overview supporting the aggregate germline classification for this VCV history.

The positioning is safe. The https:// assures that you will be connecting into the official Web-site and that any information you give is encrypted and transmitted securely.

The site is secure. The https:// makes certain you are connecting for the official Site Which any information and facts you provide is encrypted and transmitted securely.

Stars signify the assessment position, or the level of review supporting the submitted (SCV) history. This price is calculated by NCBI depending on data from the submitter.