Examine This Report on thr777

Examine This Report on thr777

Blog Article

The outcome of your variant on RNA or protein purpose, dependant on experimental evidence from submitters.

This sequence alter has an effect on codon 777 from the GAA mRNA. It is just a 'silent' modify, meaning 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 can be Element 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 described within the literature in persons afflicted with GAA-connected ailments.

There's no functional evidence in ClinVar for this variation. Should you have generated practical info for this variation, please think about submitting that information to ClinVar.

This column contains more details supporting the classification, including citations, the comment on classification, and in-depth evidence offered as observations from the variant by the submitter.

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

The site is safe. The https:// makes certain you are connecting on the Formal Web-site and that any data you give is encrypted and transmitted securely.

There won't be any citations for germline classification of this variant in ClinVar. If you already know of citations for this variation, you should take into consideration publishing that facts to ClinVar.

The publishing Group for this submitted (SCV) document. This column also features the SCV accession and Edition number, the date this SCV first appeared in ClinVar, plus the date that this SCV was final updated in ClinVar.

These citations are identified by LitVar utilizing the rs variety, so they may include things like citations for more than one variant at this site. Be sure to assessment the LitVar effects very carefully in your variant of interest. Document very last current Might 19, 2024 

Aberrant 5' splice web-sites in human disorder genes: mutation pattern, nucleotide composition and comparison of computational resources that forecast their utilization.

The website is protected. The https:// makes certain that you're connecting to the official website Which any info you deliver is encrypted and transmitted securely.

The quantity of variants in ClinVar for this gene, such as scaled-down variants within the gene and larger CNVs that overlap or fully comprise the gene.

The location is safe. The https:// makes sure that you're connecting towards the Formal Web-site and that any info you offer is encrypted and transmitted securely.

Stars depict the evaluation standing, or the extent of evaluate supporting the thr777 submitted (SCV) record. This value is calculated by NCBI depending on info with the submitter.