WebList of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as uncertain significance for anterior horn disorder Included ClinVar conditions (136): Adult-onset … WebNM_182919.4(TICAM1):c.773C>T (p.Ser258Leu) AND Herpes simplex encephalitis, susceptibility to, 4 Clinical significance: Uncertain significance (Last evaluated: Sep 29, 2024) Review status: 1 star out of maximum of 4 stars
VCV000554197.7 - ClinVar - NCBI
WebVariants in KIF1A were identified in different forms of neurodegenerative diseases. Here, we generated induced pluripotent stem cells (iPSCs) from a Chinese hereditary spastic paraplegia (HSP) patient carrying a compound heterozygous c.773C>T(p.T258M) mutation in KIF1A gene by reprogramming peripheral blood cells with non-integrative vectors. Webrepository.ubn.ru.nl civil war casualties by race
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) AND …
WebFeb 13, 2024 · Description: single nucleotide variant Variant details Conditions Gene (s) Help NM_054012.4 (ASS1):c.773C>T (p.Ala258Val) Allele ID 545221 Variant type single nucleotide variant Variant length 1 bp Cytogenetic location 9q34.11 Genomic location 9: 130479800 (GRCh38) GRCh38 UCSC 9: 133355187 (GRCh37) GRCh37 UCSC HGVS … WebNM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) AND Charcot-Marie-Tooth disease type 2 Clinical significance: Uncertain significance (Last evaluated: Dec 2, 2024) Review status: dove soap bar microwave