About thr777

About thr777

Blog Article

The outcome from the variant on RNA or protein function, according to experimental proof from submitters.

This sequence improve affects codon 777 on the GAA mRNA. It's a 'silent' alter, that means that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is Portion of the consensus splice web site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented during the literature in individuals affected with GAA-linked problems.

This day represents the last time this VCV history was current. The update could be as a result of an update to on the list of integrated submitted documents (SCVs), or as a result of an update that ClinVar created for the variant for instance including HGVS expressions or perhaps a rs number.

The worldwide minor allele frequency calculated because of the 1000 Genomes Venture. The small allele at this place is indicated in parentheses and may be different from the allele represented by this VCV history.

The affliction for your classification, furnished by the submitter for this submitted (SCV) report. This column also incorporates the afflicted standing and allele origin of people noticed using this variant.

The website is protected. The https:// ensures that you'll be connecting to your official Site Which any facts you offer 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, be sure to take into consideration distributing that information and facts to ClinVar.

The amount of variants in ClinVar which might be contained within just this gene, using a hyperlink to look at the list of variants.

These citations are identified by LitVar utilizing the rs number, so They might include citations for more than one variant at this locale. Remember to review the LitVar results meticulously for the variant of fascination. Record previous up-to-date May 19, 2024 

Aberrant five' splice sites in human ailment genes: mutation sample, nucleotide framework and comparison of computational tools that forecast thr777 their utilization.

The site is safe. The https:// ensures that you'll be connecting on the official Internet site and that any facts you offer is encrypted and transmitted securely.

The volume of variants in ClinVar for this gene, like smaller variants in the gene and bigger CNVs that overlap or completely comprise the gene.

You can e-mail the positioning proprietor to let them know you ended up blocked. You should involve what you were performing when this webpage came up and also the Cloudflare Ray ID identified at the bottom of the web site.

The site is safe. The https:// assures that you're connecting to the Formal Site Which any data you offer is encrypted and transmitted securely.