thr777 Secrets

thr777 Secrets

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The influence with the variant on RNA or protein functionality, depending on experimental proof from submitters.

This sequence transform impacts 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 the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in men and women afflicted with GAA-associated problems.

There isn't any practical evidence in ClinVar for this variation. When you have generated functional data for this variation, please consider publishing that details to ClinVar.

This column involves more information supporting the classification, like citations, the comment on classification, and specific evidence delivered as observations with the variant through the submitter.

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Read through our policies for calculating the critique standing. This column also includes a link into the submitter’s assertion standards if presented, and the collection process.

The quantity of variants in ClinVar which have been contained in this gene, which has a backlink to check out the listing of variants.

These citations are identified by LitVar using the rs selection, so they may incorporate citations for multiple variant at this place. You should evaluation the LitVar effects cautiously on your variant of desire. Record previous up-to-date May perhaps 19, 2024 

Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide structure and comparison of computational applications that forecast their utilization.

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The volume of variants in ClinVar for this gene, like smaller variants inside the gene and bigger CNVs that thr777 overlap or completely comprise the gene.

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