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These notifications can be provided by manufacturers, importers and downstream users. According to the harmonised classification and labelling ATP17 approved by the European Union, this substance is very toxic to aquatic life, is very toxic to aquatic life with long lasting effects, is harmful if swallowed and causes serious eye damage. Additionally, if available, information on the use of the substance and how consumers and workers are likely to be exposed to it can also be displayed here.
The use information is displayed per substance life cycle stage consumer use, in articles, by professional workers widespread uses , in formulation or re-packing, at industrial sites or in manufacturing. The information is aggregated from the data coming from REACH substance registrations provided by industry.
For a detailed overview on identified uses and environmental releases, please consult the registered substance factsheet. Use descriptors are adapted from ECHA guidance to improve readability and may not correspond textually to descriptor codes described in Chapter R.
The examples provided are generic examples and may not apply to the specific substance you are viewing. A substance may have its use restricted to certain articles or products and therefore not all the examples may apply to the specific substance.
Furthermore, some substances can be found in an article, but with unlikely exposure e. The described Product category i. More help is available here. ECHA has no public registered data indicating whether or in which chemical products the substance might be used. ECHA has no public registered data on the routes by which this substance is most likely to be released to the environment.
ECHA has no public registered data indicating whether or into which articles the substance might have been processed. ECHA has no public registered data on the types of manufacture using this substance. This substance has an industrial use resulting in manufacture of another substance use of intermediates. This substance is used for the manufacture of: chemicals. Release to the environment of this substance can occur from industrial use: as an intermediate step in further manufacturing of another substance use of intermediates.
Release to the environment of this substance can occur from industrial use: manufacturing of the substance. This section provides links to the list of precautions precautionary statements and to the guidance on safe use, if they have been provided in REACH registration dossiers. Please note: Precautionary measures and guidance on safe use concern the use and handling of the specific substance as such, not of the presence of the substance in other articles or mixtures.
Information on precautionary measures and the safe use is submitted by the registrant of a substance and the registrant is solely responsible for its accuracy and completeness. InfoCards are generated automatically based on the data available at the time of generation. The quality and correctness of the information submitted to ECHA remains the responsibility of the data submitter. The type of uses and classifications may vary between different submissions to ECHA and for a full understanding it is recommended to consult the source data.
Information on applicable regulatory frameworks is also automatically generated and may not be complete or up to date. It is the responsibility of the substance manufacturers and importers to consult official publications, e. InfoCards are updated when new information is available. The date of the last update corresponds to the publication date of the InfoCard and not necessarily to the date in which the update occurred in the source data.
Here you can find all of the regulations and regulatory lists in which this substance appears, according to the data available to ECHA. This substance has been found in the following regulatory activities directly, or inheriting the regulatory context of a parent substance :. Nevertheless, Article of the Regulation provides for a transitional period allowing medical devices, under specified conditions e. In accordance with the fourth paragraph of Article , this period ends 26 May This list contains a non-exhaustive inventory of hazardous substances for purposes of essential requirements Article 3 and Annex I for general safety, design, manufacture and hazard communication of in vitro diagnostic medical devices.
Substance Information. Substance Infocard See a problem or have feedback? Molecular formula The molecular formula identifies each type of element by its chemical symbol and identifies the number of atoms of each element found in one discrete molecule of the substance.
Please note: The purpose of the information provided under this section is to highlight the substance hazardousness in a readable format. Other relevant information includes the following: Substances may have impurities and additives that lead to different classifications. If at least one company has indicated that the substance classification is affected by impurities or additives, this will be indicated by an informative sentence.
However, substance notifications in the InfoCard are aggregated independently of the impurities and additives. Harmonised classification and labelling CLH Harmonised classification and labelling is a legally binding classification and labelling for a substance, agreed at European Community level.
Consumer Uses ECHA has no public registered data indicating whether or in which chemical products the substance might be used. Article service life ECHA has no public registered data on the routes by which this substance is most likely to be released to the environment. Widespread uses by professional workers ECHA has no public registered data indicating whether or in which chemical products the substance might be used. Formulation or re-packing ECHA has no public registered data indicating whether or in which chemical products the substance might be used.
Uses at industrial sites This substance has an industrial use resulting in manufacture of another substance use of intermediates. Manufacture Release to the environment of this substance can occur from industrial use: manufacturing of the substance. How to use it safely How to use it safely This section provides links to the list of precautions precautionary statements and to the guidance on safe use, if they have been provided in REACH registration dossiers.
Precautionary statements - describe recommended measures to minimise or prevent adverse effects resulting from exposure to a hazardous product or improper storage or handling of a hazardous product. Guidance on safe use - recommendations by substance registrant on the proper use of the substance in various situations. Examples include recommended measures on fire-fighting, transport and recycling and disposal.
Precautionary measures suggested by manufacturers and importers of this substance. Guidance on the safe use of the substance provided by manufacturers and importers of this substance. Go to the FTP site Overview. Follow this variant to be notified when its overall interpretation changes. Cite this record Close. Submitted interpretations and evidence Help. Invitae Variant Classification Sherloc Allele origin: germline.
Accession: SCV The arginine residue is highly conserved and there is a … more. This sequence change replaces arginine with histidine at codon of the NBAS protein p. The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases rs, ExAC 0.
This variant has been observed to be homozygous and in combination with another NBAS variant in individuals and families affected with short stature, optic nerve atrophy, and Pelger-Huet SOPH anomaly, or clinical features of this condition PMID: , , , , , ClinVar contains an entry for this variant Variation ID: Algorithms developed to predict the effect of missense changes on protein structure and function SIFT, PolyPhen-2, Align-GVGD all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.
For these reasons, this variant has been classified as Pathogenic. GeneDx Variant Classification The RH pathogenic variant in the NBAS gene has been reported previously either in the homozygous state or in combination with another NBAS variant in multiple individuals with features of NBAS-related disorder, but liver disease was not reported in all individuals Maksimova et al.
We interpret RH as a pathogenic variant. ACMG Guidelines, PubMed: The minor allele frequency in the normal Yakut population was 0. Functional evidence Help. Citations for this variant Help. Text-mined citations for rs
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