WebNM_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) WebSep 3, 2024 · Description: single nucleotide variant Variant details Conditions Gene (s) Help NM_002485.5 (NBN):c.38-5C>T Allele ID 233725 Variant type single nucleotide variant Variant length 1 bp Cytogenetic location 8q21.3 Genomic location 8: 89982860 (GRCh38) GRCh38 UCSC 8: 90995088 (GRCh37) GRCh37 UCSC HGVS ... more HGVS Protein …
List of variants in gene CYBA reported as likely benign for ...
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 ... WebJun 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 … feeling of ball in throat when swallowing
Pedigree of the family and complex intronic haplotype (c.-10C > T …
WebNov 29, 2024 · The c.971-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 8 in the POLD1 gene. This nucleotide position is well conserved in available vertebrate species. WebNov 3, 2024 · An open floor plan with vaulted ceilings featuring a spacious living room cozy see-through gas fireplace and formal dining area. The bright and remodeled kitchen has … WebFeb 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 … feeling of ants crawling on legs