Web23 Mar 2024 · THG1L : 618802 : 6p23-p21 : Spinocerebellar ataxia, autosomal recessive 3 : AR: 2 : 271250 : SCAR3 : 271250 : 6p22.3 : Spinocerebellar ataxia, autosomal recessive 23 : AR: 3 : 616949 : ... To ensure long-term funding for the OMIM project, we have diversified our revenue stream. We are determined to keep this website freely accessible. Web16 Dec 2024 · Full Name tRNA-histidine guanylyltransferase 1 like Location Chromosome 5 (5q33.3) Function The THG1L gene codes for a protein involved in the modification of tRNA ( Gu, et al., 2003 ). Database Links GeneCards: GC05P157731 NCBI Gene: 54974 UniProtKB/Swiss-Prot: Q9NWX6 Clinical Significance Changes in this gene were identified …
THG1L - panelapp.genomicsengland.co.uk
WebClinical resource with information about Spinocerebellar ataxia autosomal recessive 28 and its clinical features, THG1L, available genetic tests from US and labs around the world and … Web29 Mar 2024 · THG1L tRNA-histidine guanylyltransferase 1 like [ (human)] Gene ID: 54974, updated on 29-Mar-2024 Summary The protein encoded by this gene is a mitochondrial … team kubica
Reactome THG1L [cytosol]
Web15 Jun 2016 · Autosomal-recessive cerebellar atrophy is usually associated with inactivating mutations and early-onset presentation. The underlying molecular diagnosis suggests the involvement of neuronal survival pathways, but many mechanisms are still lacking and most patients elude genetic diagnosis. Using whole exome sequencing, we identified … WebOnline Mendelian Inheritance in Man (OMIM) RefSeqGene; All Genes & Expression Resources... Genetics & Medicine. Bookshelf; Database of Genotypes and Phenotypes (dbGaP) Genetic Testing Registry; Influenza Virus; Online Mendelian Inheritance in Man (OMIM) PubMed; PubMed Central (PMC) PubMed Clinical Queries; RefSeqGene; All … team kukula