Little Known Facts About thr777.
Little Known Facts About thr777.
Blog Article
The influence on the variant on RNA or protein perform, determined by experimental evidence from submitters.
This sequence change impacts codon 777 of the GAA mRNA. It's really a 'silent' modify, that means that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Element of the consensus splice web-site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed during the literature in men and women affected with GAA-relevant situations.
This date represents the last time this VCV document was current. The update could be because of an update to among the list of included submitted records (SCVs), or as a result of an update that ClinVar designed into the variant like adding HGVS expressions or even a rs variety.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this locale is indicated in parentheses and may be unique through the allele represented by this VCV history.
The internet site is secure. The https:// makes certain that you're connecting to your official Site Which any info you supply is encrypted and transmitted securely.
The aggregate germline classification for this variant, ordinarily for just a monogenic or Mendelian condition as while in the ACMG/AMP rules, or for response to your drug. This benefit is calculated by NCBI based upon info from submitters. Go through our policies for calculating the mixture classification.
There aren't any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please think about submitting that data to ClinVar.
The quantity of variants in ClinVar which are contained inside of this gene, having a website link to see the list of variants.
This Internet site is utilizing a security company to shield itself from on-line attacks. The motion you simply executed triggered the safety Option. There thr777 are numerous steps that may result in this block including distributing a certain phrase or phrase, a SQL command or malformed data.
Aberrant five' splice sites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that predict their utilization.
Stars stand for the mixture review position, or the level of critique supporting the combination germline classification for this VCV record.
The website is safe. The https:// makes certain that you're connecting to your Formal Web-site Which any info you supply is encrypted and transmitted securely.
You could electronic mail the location proprietor to allow them to know you have been blocked. Make sure you consist of what you ended up undertaking when this webpage arrived up and also the Cloudflare Ray ID found at the bottom of this site.
The positioning is secure. The https:// guarantees you are connecting to your official Site Which any information and facts you deliver is encrypted and transmitted securely.