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

This sequence change influences codon 777 from the GAA mRNA. It's really 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 final nucleotide of exon 16, that is Portion of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-related disorders.

There isn't any purposeful evidence in ClinVar for this variation. Should you have generated useful data for this variation, be sure to think about publishing that knowledge to ClinVar.

This column includes more details supporting the classification, which include citations, the touch upon classification, and detailed evidence offered as observations on the variant via the submitter.

The situation for your classification, provided by the submitter for this submitted (SCV) document. This column also involves the affected status and allele origin of people noticed with this particular variant.

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

The submitting Corporation for this submitted (SCV) file. This column also includes the SCV accession and Model quantity, the day this SCV initial appeared in ClinVar, as well as date that this SCV was past up to date in ClinVar.

These citations are discovered by LitVar using the rs range, so they may incorporate citations for multiple variant at this place. thr777 You should review the LitVar benefits carefully on your variant of desire. Record final up-to-date May perhaps 19, 2024 

Aberrant 5' splice websites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.

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

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