WebTable 2). In both cases, a homozygous c.421G>C (p.G141R) variant in ILDR1 (NM_001199799) was the only candidate variant consistent with the possible recessive … Web21 mrt. 2024 · ILDR1 (Immunoglobulin Like Domain Containing Receptor 1) is a Protein Coding gene. Diseases associated with ILDR1 include Deafness, Autosomal Recessive …
List of variants reported as pathogenic for autosomal recessive ...
WebCytotoxic CD8+ T cells (CTL) are a crucial component of the immune system notable for their ability to eliminate rapidly proliferating malignant cells. However, the T … WebMultiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele … nursing implications for oxytocin
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing
Web164 No GRXCR1 NM_001080476.2 chr4:42964963C>T c.439C>T p.Arg147Cys 5.2 × 10-5 156 No ILDR1 NM_001199799.1 chr3:121713035G>A c.772C>T p.Gln258* 5.0 × 10-4 … Web7 feb. 2024 · Description: single nucleotide variant Variant details Conditions Gene (s) Help NM_001199799.2 (ILDR1):c.772C>T (p.Gln258Ter) Allele ID 228980 Variant type single … WebILDR1 Antibodies Antibodies that detect ILDR1 can be used in several scientific applications, including Western Blot, ELISA, Immunohistochemistry and Flow Cytometry. These antibodies target ILDR1 in Human, Rat and Mouse samples. Our ILDR1 polyclonal antibodies are developed in Rabbit and Mouse. Find the ILDR1 antibody that fits your … nursing implications for pancreatitis