NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter) AND Cockayne syndrome type 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002306781.2
Allele description [Variation Report for NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter)]
NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter)
Condition(s)
-
alpha-2u globulin PGCL4 precursor [Rattus norvegicus]
alpha-2u globulin PGCL4 precursor [Rattus norvegicus]gi|77695921|ref|NP_671748.2|Protein
-
CBR3 carbonyl reductase 3 [Sus scrofa]
CBR3 carbonyl reductase 3 [Sus scrofa]Gene ID:100512990Gene
-
Choledochostomy
CholedochostomySurgical formation of an opening (stoma) into the COMMON BILE DUCT for drainage or for direct communication with a site in the small intestine, primarily the DUODENUM or JEJUN...<br/>Year introduced: 1988MeSH
-
Pyloromyotomy
PyloromyotomySurgical incision of the PYLORUS used to treat pyloric stenoses (e.g. INFANTILE HYPERTROPHIC PYLORIC STENOSIS).<br/>Year introduced: 2018MeSH
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Last Updated: Oct 8, 2024