Helping The others Realize The Advantages Of thr777
Helping The others Realize The Advantages Of thr777
Blog Article
The effect of your variant on RNA or protein operate, dependant on experimental evidence from submitters.
This sequence change impacts codon 777 on the GAA mRNA. This is a 'silent' modify, which means that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Section of the consensus splice web-site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described within the literature in people today impacted with GAA-associated situations.
There is absolutely no useful evidence in ClinVar for this variation. In case you have produced practical knowledge for this variation, please take into consideration submitting that facts to ClinVar.
The global insignificant allele frequency calculated through the a thousand Genomes Job. The minimal allele at this spot is indicated in parentheses and will be distinctive from the allele represented by this VCV document.
The affliction for the classification, provided by the submitter for this submitted (SCV) document. This column also consists of the afflicted standing and allele thr777 origin of people observed with this variant.
The location is safe. The https:// guarantees you are connecting to your official Site and that any information you supply is encrypted and transmitted securely.
Read our guidelines for calculating the evaluation position. This column also features a url for the submitter’s assertion criteria if provided, and the gathering strategy.
The publishing Business for this submitted (SCV) history. This column also contains the SCV accession and Model amount, the day this SCV very first appeared in ClinVar, and the date this SCV was final up-to-date in ClinVar.
This Internet site is employing a stability services to guard by itself from on the web assaults. The motion you only done activated the safety Option. There are plenty of steps that might trigger this block which include submitting a specific word or phrase, a SQL command or malformed facts.
Aberrant 5' splice web pages in human condition genes: mutation sample, nucleotide structure and comparison of computational instruments that predict their utilization.
Stars stand for the aggregate overview position, or the extent of evaluate supporting the aggregate germline classification for this VCV history.
The site is secure. The https:// makes certain that you are connecting on the Formal website and that any information you provide is encrypted and transmitted securely.
The website is safe. The https:// makes sure that you're connecting on the Formal Web-site Which any information you supply is encrypted and transmitted securely.
The site is protected. The https:// assures that you're connecting to the Formal Site Which any data you supply is encrypted and transmitted securely.