Detailed Notes on thr777

Detailed Notes on thr777

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The effect of your variant on RNA or protein functionality, based on experimental proof from submitters.

This sequence improve influences codon 777 of the GAA mRNA. It is just a 'silent' alter, this means that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, which is Element of the consensus splice web site for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in people influenced with GAA-similar situations.

There's no practical evidence in ClinVar for this variation. When you've got created functional facts for this variation, make sure you take into consideration submitting that facts to ClinVar.

This column consists of more details supporting the classification, which includes citations, the touch upon classification, and thorough evidence offered as observations from the variant via the submitter.

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The aggregate germline classification for this variant, normally for just a monogenic or Mendelian ailment as from the ACMG/AMP guidelines, or for response to the drug. This value is calculated by NCBI determined by facts from submitters. thr777 Browse our rules for calculating the aggregate classification.

There are no citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to look at publishing that facts to ClinVar.

The number of variants in ClinVar that are contained in just this gene, that has a website link to view the listing of variants.

These citations are discovered by LitVar using the rs variety, so They could contain citations for multiple variant at this location. Remember to review the LitVar effects cautiously in your variant of interest. Document previous current May 19, 2024 

Aberrant 5' splice web sites in human disease genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.

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

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The site is safe. The https:// assures that you're connecting for the Formal Internet site and that any information and facts you present is encrypted and transmitted securely.