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Thg1l omim

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 https://beaumondefernhotel.com

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

NM_017872.5(THG1L):c.164T>C (p.Val55Ala) AND not provided

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Thg1l omim

Entry - #619405 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 ... - OMIM

WebTHG1L [cytosol] Stable Identifier. R-HSA-6782438 Web14 Sep 2024 · According to OMIM, 18 genes are classified as microcephaly primary hereditary (MCPH) genes. Pathogenic variants were encountered in ten of these genes, including a common founder pathogenic...

Thg1l omim

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WebTHG1L Gene Symbol: THG1L HGNC:26053 Locus Group: protein-coding gene Locus Type: gene with protein product Location: 5q33.3 By Classification By Disease By Submitter … WebTHG1L: Gene name: tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) Chromosome: 5: Chromosomal band: q33.3: Imprinted: Unknown: Genomic reference: NC_000005.9: …

Web25 Sep 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. WebHickey et al. (2011) stated that THG1L, which they called IGH1, contains a putative mitochondrial localization domain. Immunofluorescence analysis showed that epitope …

WebThe GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. WebTHG1L INFORMATION. Proteini. Full gene name according to HGNC. TRNA-histidine guanylyltransferase 1 like. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC. THG1L (FLJ11601, FLJ20546, hTHG1, ICF45, IHG …

Web21 Mar 2024 · THG1L (TRNA-Histidine Guanylyltransferase 1 Like) is a Protein Coding gene. Diseases associated with THG1L include Spinocerebellar Ataxia, Autosomal …

WebThe GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the … team kuku shopWebTHG1L:tRNA-histidine guanylyltransferase 1 like [Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 5q33.3 Genomic location: Chr5: 157731604 (on Assembly GRCh38) ... OMIM: 618802.0001; dbSNP: rs202420319 NCBI 1000 Genomes Browser: rs202420319 team kuku logoWebHuman diseases caused by Thg1l mutations The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in … eko serbia maticni brojWebAmber THG1L in Ataxia and cerebellar anomalies - narrow panel Version 3.39 Latest signed off version: v3.38 (13 Feb 2024) Component of the following Super Panels: Hereditary … team kuku mitgliederWebAbstract. Roughly 40 genes have been linked to autosomal recessive (AR) ataxia syndromes. Of these, at least 10 encode gene products localizing to the mitochondrion. tRNA-histidine … team kuma apuestasWeb8 Mar 2024 · THG1L-associated autosomal recessive ataxia belongs to a group of disorders that occur due to abnormal mitochondrial tRNA modification.The product of THG1L is the tRNA-histidine guanylyltransferase 1-like enzyme that catalyzes the 3′-5“addition of guanine to the 5”-end of tRNA-histidine in the mitochondrion. To date, five individuals with … team kukuruWebAmber THG1L in Ataxia and cerebellar anomalies - narrow panel Version 2.302 Latest signed off version: v2.23 (8 Oct 2024) Component of the following Super Panels: Hereditary … eko servis matic