link thr777 Can Be Fun For Anyone
link thr777 Can Be Fun For Anyone
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Comment: This sequence improve impacts codon 777 of the GAA mRNA. It is a 'silent' adjust, this means that it does not change the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon 16, which is part of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in men and women influenced with GAA-connected situations.
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So this date could possibly be distinct in the date of the “most up-to-date submission” reported at the best of this webpage. Assist Adhere to NCBI
These citations are discovered by LitVar using the rs number, so They could incorporate citations for multiple variant at this location. You should overview the LitVar success meticulously on your variant of interest. File past up-to-date Might 12, 2024
The combination germline classification for this variant, generally for the monogenic or Mendelian ailment as in the ACMG/AMP pointers, or for reaction to the drug. This benefit is calculated by NCBI determined by data from submitters. Browse our guidelines for calculating the mixture classification.
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Read through our regulations for calculating the critique status. This column also features a link on the submitter’s assertion requirements if presented, and the gathering method.