Cyba c.370-5c t intronic
WebEmergency Receiving (ER), Evaluation (E), Treatment (T) Facilities – By County OPCSI – 07/03/2024. PSYCHIATRIC HOSPITALS ADULT/C&A COUNTY CITY TYPE . Coastal … WebNov 29, 2024 · Description: single nucleotide variant Variant details Conditions Gene (s) Help NM_000249.4 (MLH1):c.1732-5C>T Allele ID 95337 Variant type single nucleotide variant Variant length 1 bp Cytogenetic location 3p22.2 Genomic location 3: 37047514 (GRCh38) GRCh38 UCSC 3: 37089005 (GRCh37) GRCh37 UCSC HGVS ... more …
Cyba c.370-5c t intronic
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WebThe information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their WebJan 1, 2024 · Description: single nucleotide variant Variant details Conditions Gene (s) Help NM_006231.4 (POLE):c.3582+5C>T Allele ID 222222 Variant type single nucleotide variant Variant length 1 bp Cytogenetic location 12q24.33 Genomic location 12: 132657131 (GRCh38) GRCh38 UCSC 12: 133233717 (GRCh37) GRCh37 UCSC HGVS ... more …
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WebList of variants in gene CYBA reported as likely benign for Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Minimum submission review status: ★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline
WebNov 5, 2024 · The c.1362-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 13 in the TSC2 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice ... the white hart east sussexWebFigure 1. Strategy followed for the study of BRCA1/2 deep intronic regions in patients with HBOC. The diagram summarises the steps followed from patient selection to RNA … the white hart godmanchester ltdWebNM_000101.4(CYBA):c.370-5C>T AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative. Clinical significance: Uncertain significance (Last evaluated: Jun 21, 2024) the white hart dartmoorWebFeb 7, 2024 · Description: single nucleotide variant Variant details Conditions Gene (s) Help NM_000314.8 (PTEN):c.254-5C>T Allele ID 815457 Variant type single nucleotide variant Variant length 1 bp Cytogenetic location 10q23.31 Genomic location 10: 87933008 (GRCh38) GRCh38 UCSC 10: 89692765 (GRCh37) GRCh37 UCSC HGVS ... more … the white hart greenhillWebJun 8, 2012 · Case presentation: We describe the case of a 40-year-old female patient who presented with transient ischemic attack (TIA), discomfort in her hands, intolerance to … the white hart essexWebThis sequence change falls in intron 5 of the CYBA gene. It does not directly change the encoded amino acid sequence of the CYBA protein. The frequency data for this variant … the white hart great yeldham restaurantWebThe Cyclone ® 70 family offers wide flexibility both in accelerated current and energy giving you a large flexibility for production. Thanks to its multi-targets layout, this machine fits … the white hart godmanchester menu