### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRIA2) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "GRIA2" "glutamate receptor, ionotropic, AMPA 2" "4" "q32.1" "unknown" "NC_000004.11" "UD_132612516189" "" "https://www.LOVD.nl/GRIA2" "" "1" "4572" "2891" "138247" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/GRIA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-17 11:56:52" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025680" "GRIA2" "transcript variant 2" "001" "NM_001083619.1" "" "NP_001077088.1" "" "" "" "-459" "5296" "2652" "158141736" "158287227" "00006" "2022-01-17 13:39:37" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06891" "NEDLIB" "neurodevelopmental disorder with language impairment and behavioral abnormalities" "AD" "618917" "" "" "" "00006" "2022-01-17 11:56:27" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GRIA2" "05611" "GRIA2" "06891" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00231337" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "Spain" "" "0" "" "" "" "Pat1" "00231345" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2" "00231346" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "" "" "0" "" "" "white" "Pat3" "00231347" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat4" "00231348" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat5" "00231349" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "F" "" "" "" "0" "" "" "white" "Pat6" "00231356" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "" "" "0" "" "" "" "Pat9" "00231359" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "F" "" "China" "" "0" "" "" "" "Pat10" "00231362" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "China" "" "0" "" "" "Han" "Pat11" "00231363" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "" "" "0" "" "" "" "Pat12" "00231365" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "F" "" "" "" "0" "" "" "" "Pat13" "00231366" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "F" "" "Korea" "" "0" "" "" "" "Pat14" "00231368" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "F" "" "China" "" "0" "" "" "Han" "Pat15" "00231369" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "" "" "0" "" "" "" "Pat16" "00231371" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "United States" "00y03m" "0" "" "" "Jewish-Ashkenazi" "Pat17" "00231372" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "" "" "0" "" "" "white" "Pat18" "00231376" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "China" "" "0" "" "" "Han" "Pat19" "00231377" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "F" "" "Brazil" "00y05m" "0" "" "" "" "Pat20" "00231378" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat21" "00231379" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "" "" "0" "" "" "" "Pat22" "00231380" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "F" "" "" "" "0" "" "" "" "Pat23" "00231381" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "" "" "0" "" "" "" "Pat24" "00231388" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "F" "" "United States" "" "0" "" "" "Latino-American" "Pat7" "00231389" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:31300657}" "" "M" "" "United States" "" "0" "" "" "white;Latino-American" "Pat8" "00399218" "" "" "" "1" "" "00006" "{PMID:Salpietro 2019:31300657}" "" "F" "" "Canada" "" "0" "" "" "" "Pat25" "00399239" "" "" "" "1" "" "00006" "{PMID:Salpietro 2019:31300657}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat26" "00399240" "" "" "" "1" "" "00006" "{PMID:Salpietro 2019:31300657}" "" "F" "" "Italy" "" "0" "" "" "" "Pat27" "00399241" "" "" "" "1" "" "00006" "{PMID:Salpietro 2019:31300657}" "" "M" "" "" "" "0" "" "" "white" "Pat28" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00231337" "00139" "00231345" "00139" "00231346" "00139" "00231347" "00139" "00231348" "00139" "00231349" "00139" "00231356" "00139" "00231359" "00139" "00231362" "00139" "00231363" "00139" "00231365" "00139" "00231366" "00139" "00231368" "00139" "00231369" "00139" "00231371" "00139" "00231372" "00139" "00231376" "00139" "00231377" "00139" "00231378" "00139" "00231379" "00139" "00231380" "00139" "00231381" "00139" "00231388" "00139" "00231389" "00139" "00399218" "00139" "00399239" "00139" "00399240" "00139" "00399241" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05611, 06891 ## Count = 28 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000292306" "00139" "00231389" "00006" "Isolated (sporadic)" "02y" "OFC 75th- 90th; developmental delay; intellectual disability; no seizures; no Rett syndrome like features; brain MRI normal; cryptorchidism" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292307" "00139" "00231337" "00006" "Isolated (sporadic)" "03y06m" "OFC <3rd; developmental delay; intellectual disability; focal seizures, tonic-clonic seizures; head growth deceleration; no speech; brain MRI cerebellar atrophy; unable to walk" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292308" "00139" "00231345" "00006" "Isolated (sporadic)" "13y" "OFC 25th; developmental delay; intellectual disability; no seizures; autism spectrum disorder; stereotyped hand movements; delayed speech; brain MRI normal" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292309" "00139" "00231346" "00006" "Isolated (sporadic)" "19y" "OFC 25th; developmental delay; intellectual disability; no seizures; autism spectrum disorder; language regression; no speech; brain MRI normal; obsessive-compulsive traits" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292310" "00139" "00231347" "00006" "Isolated (sporadic)" "19y" "OFC 25th -50th; developmental delay; intellectual disability; no seizures; no autism spectrum disorder; psychomotor regression; no speech; brain MRI white matter changes; ataxic gait, dystonia" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292311" "00139" "00231348" "00006" "Isolated (sporadic)" "10y" "OFC 50th; developmental delay; intellectual disability; febrile seizures; autism spectrum disorder; delayed speech; brain MRI normal" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292312" "00139" "00231349" "00006" "Isolated (sporadic)" "31y" "OFC <3rd; developmental delay; intellectual disability; no seizures; autism spectrum disorder; head growth deceleration; delayed speech; self-harm behaviour" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292313" "00139" "00231388" "00006" "Isolated (sporadic)" "11y" "developmental delay; intellectual disability; tonic-clonic seizures; autism spectrum disorder; stereotyped hand movements; no speech; unable to walk" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292314" "00139" "00231356" "00006" "Isolated (sporadic)" "09y" "OFC 10th; developmental delay; intellectual disability; no seizures; autism spectrum disorder; stereotyped hand movements; delayed speech; brain MRI normal; joint hyper-extensibility" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292315" "00139" "00231359" "00006" "Isolated (sporadic)" "05y" "OFC 10th- 25th; developmental delay; intellectual disability; no seizures; autism spectrum disorder; delayed speech; brain MRI normal" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292316" "00139" "00231362" "00006" "Isolated (sporadic)" "08y" "OFC 5-10th; developmental delay; intellectual disability; no seizures; autism spectrum disorder; microcephaly; delayed speech; brain MRI normal; hyperactive behaviour" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292317" "00139" "00231363" "00006" "Isolated (sporadic)" "06y" "OFC 25th-50th; developmental delay; intellectual disability; no seizures; autism spectrum disorder; no speech; brain MRI normal; obsessive-compulsive traits" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292318" "00139" "00231365" "00006" "Isolated (sporadic)" "03y" "OFC <3rd; developmental delay; intellectual disability; focal seizures, clonic seizures; no autism spectrum disorder; head growth deceleration; no speech; brain MRI cerebellar atrophy; dystonia, dyskinesia" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292319" "00139" "00231366" "00006" "Isolated (sporadic)" "08y" "developmental delay; intellectual disability; no seizures; autism spectrum disorder; no purposeful hand movements; no speech; brain MRI normal; sleep disturbances" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292320" "00139" "00231368" "00006" "Isolated (sporadic)" "13y" "developmental delay; intellectual disability; no seizures; autism spectrum disorder; no Rett syndrome like features; delayed speech" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292321" "00139" "00231369" "00006" "Isolated (sporadic)" "09y" "OFC 25th; developmental delay; intellectual disability; focal seizures, tonic-clonic seizures; psychomotor regression; no speech; brain MRI mild cerebellar atrophy; unable to walk" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292322" "00139" "00231371" "00006" "Isolated (sporadic)" "00y03m" "3m-deceased; OFC 10th; developmental delay; focal seizures, tonic-clonic seizures; head growth deceleration; brain MRI cerebellar atrophy; exaggerated startle response" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292323" "00139" "00231372" "00006" "Isolated (sporadic)" "05y" "OFC 10th; developmental delayFocal, tonic-clonic; tonic-clonic seizures; autism spectrum disorder; no Rett syndrome like features; no speech; brain MRI brain/cerebellar atrophy; spasticity, chorea" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292324" "00139" "00231376" "00006" "Isolated (sporadic)" "05y" "developmental delayFocal, tonic-clonic; no seizures; autism spectrum disorder; hand and finger mannerisms; delayed speech; obsessive- compulsive traits" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292325" "00139" "00231377" "00006" "Isolated (sporadic)" "00y05m" "5m-deceased; OFC 50th-75th; developmental delay; focal seizures, clonic seizures; brain MRI brain/cerebellar atrophy; breathing difficulties" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292326" "00139" "00231378" "00006" "Isolated (sporadic)" "03y" "OFC >3rd; developmental delayFocal, tonic-clonic; focal seizures, tonic-clonic seizures; head growth deceleration; no speech; brain MRI normal" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292327" "00139" "00231379" "00006" "Isolated (sporadic)" "03y" "OFC 90th; developmental delayFocal, tonic-clonic; no seizures; autism spectrum disorder; hand clapping; delayed speech; brain MRI normal; repetitive behaviours" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292328" "00139" "00231380" "00006" "Isolated (sporadic)" "30y" "developmental delayFocal, tonic-clonic; tonic seizures; autism spectrum disorder; no Rett syndrome like features; no speech; brain MRI normal; repetitive behaviors" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292329" "00139" "00231381" "00006" "Isolated (sporadic)" "05y" "developmental delayFocal, tonic-clonic; focal seizures, clonic seizures; no Rett syndrome like features; no speech; brain MRI brain/cerebellar atrophy; unable to walk" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292330" "00139" "00399218" "00006" "Isolated (sporadic)" "03y07m" "OFC 50th; developmental delayFocal, tonic-clonic; tonic-clonic seizures, focal seizures; autism spectrum disorder; stereotyped hand movements; no speech; brain MRI normal" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292351" "00139" "00399239" "00006" "Isolated (sporadic)" "06y" "OFC 10th -25th; developmental delayFocal, tonic-clonic; no seizures; autism spectrum disorder; no Rett syndrome like features; delayed speech; brain MRI normal; joint hyper-laxity" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292352" "00139" "00399240" "00006" "Isolated (sporadic)" "12y" "developmental delayFocal, tonic-clonic; no seizures; no autism spectrum disorder; no Rett syndrome like features; no speech; congenital clubfoot" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" "0000292353" "00139" "00399241" "00006" "Isolated (sporadic)" "13y" "OFC 25th; developmental delayFocal, tonic-clonic; no seizures; no autism spectrum disorder; delayed speech; brain MRI normal; impaired social interaction" "" "" "" "" "" "" "" "NEDLIB" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000232435" "00231337" "1" "02190" "02190" "2019-04-30 12:46:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000232442" "00231345" "1" "02190" "02190" "2019-04-30 13:11:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000232443" "00231346" "1" "02190" "02190" "2019-04-30 13:14:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000232444" "00231347" "1" "02190" "02190" "2019-04-30 13:17:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000232445" "00231348" "1" "02190" "02190" "2019-04-30 13:19:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000232446" "00231349" "1" "02190" "02190" "2019-04-30 13:21:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000232454" "00231356" "1" "02190" "02190" "2019-04-30 15:28:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000232457" "00231359" "1" "02190" "02190" "2019-04-30 15:35:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000232459" "00231362" "1" "02190" "02190" "2019-04-30 15:43:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000232461" "00231363" "1" "02190" "02190" "2019-04-30 15:44:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000232462" "00231365" "1" "02190" "02190" "2019-04-30 15:46:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000232464" "00231366" "1" "02190" "02190" "2019-04-30 15:47:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000232466" "00231368" "1" "02190" "02190" "2019-04-30 15:54:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000232467" "00231369" "1" "02190" "02190" "2019-04-30 15:56:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000232469" "00231371" "1" "02190" "02190" "2019-04-30 15:57:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000232470" "00231372" "1" "02190" "02190" "2019-04-30 15:59:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000232474" "00231376" "1" "02190" "02190" "2019-04-30 16:11:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000232475" "00231377" "1" "02190" "02190" "2019-04-30 16:14:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000232476" "00231378" "1" "02190" "02190" "2019-04-30 16:16:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000232477" "00231379" "1" "02190" "02190" "2019-04-30 16:18:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000232478" "00231380" "1" "02190" "02190" "2019-04-30 16:22:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000232479" "00231381" "1" "02190" "02190" "2019-04-30 16:23:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000232486" "00231388" "1" "02190" "02190" "2019-04-30 23:50:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000232487" "00231389" "1" "02190" "02190" "2019-04-30 23:54:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000400462" "00399218" "1" "00006" "00006" "2022-01-17 14:49:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400483" "00399239" "1" "00006" "00006" "2022-01-17 14:51:39" "" "" "arrayCGH" "DNA" "" "" "0000400484" "00399240" "1" "00006" "00006" "2022-01-17 14:55:54" "" "" "arrayCGH" "DNA" "" "" "0000400485" "00399241" "1" "00006" "00006" "2022-01-17 14:59:24" "" "" "arrayCGH" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000232474" "A2ML1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 49 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000255223" "0" "30" "4" "158283942" "158283942" "subst" "1.24175E-5" "01943" "GRIA2_000002" "g.158283942A>G" "" "" "" "GRIA2(NM_000826.3):c.2407-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157362790A>G" "" "likely benign" "" "0000330155" "0" "50" "4" "158253993" "158253993" "subst" "0" "01804" "GRIA2_000001" "g.158253993A>G" "" "" "" "GRIA2(NM_000826.3):c.905A>G (p.(Asp302Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157332841A>G" "" "VUS" "" "0000474847" "0" "90" "4" "158282233" "158282233" "subst" "0" "02190" "GRIA2_000003" "g.158282233G>T" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157361081G>T" "" "pathogenic (dominant)" "" "0000474848" "0" "90" "4" "158257637" "158257645" "del" "0" "02190" "GRIA2_000004" "g.158257637_158257645del" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157336485_157336493del" "" "pathogenic (dominant)" "" "0000474849" "0" "90" "4" "158257886" "158257886" "subst" "0" "02190" "GRIA2_000005" "g.158257886G>A" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157336734G>A" "" "pathogenic (dominant)" "" "0000474850" "0" "90" "4" "158257880" "158257880" "subst" "0" "02190" "GRIA2_000006" "g.158257880G>A" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157336728G>A" "" "pathogenic (dominant)" "" "0000474851" "0" "90" "4" "158253993" "158253993" "subst" "0" "02190" "GRIA2_000001" "g.158253993A>G" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157332841A>G" "" "pathogenic (dominant)" "" "0000474852" "0" "90" "4" "158282773" "158282773" "subst" "0" "02190" "GRIA2_000007" "g.158282773G>T" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157361621G>T" "" "pathogenic (dominant)" "" "0000474861" "0" "90" "4" "158257637" "158257637" "subst" "0" "02190" "GRIA2_000009" "g.158257637C>A" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157336485C>A" "" "pathogenic (dominant)" "" "0000474864" "0" "90" "4" "158257840" "158257840" "del" "0" "02190" "GRIA2_000010" "g.158257840del" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157336688del" "" "pathogenic (dominant)" "" "0000474865" "0" "90" "4" "158257900" "158257900" "subst" "0" "02190" "GRIA2_000011" "g.158257900G>A" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157336748G>A" "" "pathogenic (dominant)" "" "0000474867" "0" "90" "4" "158242726" "158242726" "del" "0" "02190" "GRIA2_000012" "g.158242726del" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157321574del" "" "pathogenic (dominant)" "" "0000474868" "0" "90" "4" "158262508" "158262508" "subst" "0" "02190" "GRIA2_000013" "g.158262508C>A" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157341356C>A" "" "pathogenic (dominant)" "" "0000474871" "0" "90" "4" "158262503" "158262503" "subst" "0" "02190" "GRIA2_000014" "g.158262503C>A" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157341351C>A" "" "pathogenic (dominant)" "" "0000474873" "0" "90" "4" "158142870" "158142870" "subst" "0" "02190" "GRIA2_000015" "g.158142870G>A" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157221718G>A" "" "pathogenic (dominant)" "" "0000474874" "0" "90" "4" "158262510" "158262510" "subst" "0" "02190" "GRIA2_000016" "g.158262510G>C" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157341358G>C" "" "pathogenic (dominant)" "" "0000474875" "0" "90" "4" "158262486" "158262486" "subst" "0" "02190" "GRIA2_000017" "g.158262486G>T" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157341334G>T" "" "pathogenic (dominant)" "" "0000474877" "0" "90" "4" "158262510" "158262510" "subst" "0" "02190" "GRIA2_000016" "g.158262510G>C" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157341358G>C" "" "pathogenic (dominant)" "" "0000474881" "0" "90" "4" "158254055" "158254055" "subst" "0" "02190" "GRIA2_000020" "g.158254055C>T" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "rs143505003" "0" "" "" "g.157332903C>T" "" "pathogenic (dominant)" "" "0000474882" "0" "90" "4" "158262486" "158262486" "subst" "0" "02190" "GRIA2_000017" "g.158262486G>T" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157341334G>T" "" "pathogenic (dominant)" "" "0000474883" "0" "90" "4" "158262510" "158262510" "subst" "0" "02190" "GRIA2_000016" "g.158262510G>C" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157341358G>C" "" "pathogenic (dominant)" "" "0000474884" "0" "90" "4" "158283979" "158283979" "subst" "0" "02190" "GRIA2_000019" "g.158283979A>G" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157362827A>G" "" "pathogenic (dominant)" "" "0000474885" "0" "90" "4" "158282726" "158282726" "subst" "0" "02190" "GRIA2_000018" "g.158282726G>T" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157361574G>T" "" "pathogenic (dominant)" "" "0000474886" "0" "90" "4" "158262510" "158262510" "subst" "0" "02190" "GRIA2_000016" "g.158262510G>C" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157341358G>C" "" "pathogenic (dominant)" "" "0000474895" "0" "90" "4" "158257874" "158257874" "subst" "0" "02190" "GRIA2_000022" "g.158257874C>G" "" "{PMID:Salpietro 2019:31300657}" "" "Arg607Gly" "" "De novo" "" "" "0" "" "" "g.157336722C>G" "" "pathogenic (dominant)" "" "0000474896" "0" "90" "4" "158142284" "158142284" "subst" "0" "02190" "GRIA2_000021" "g.158142284T>C" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157221132T>C" "" "pathogenic (dominant)" "" "0000521921" "0" "50" "4" "158282733" "158282733" "subst" "1.21909E-5" "01943" "GRIA2_000023" "g.158282733G>A" "" "" "" "GRIA2(NM_000826.3):c.2335G>A (p.V779I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157361581G>A" "" "VUS" "" "0000655115" "0" "70" "4" "158262477" "158262477" "subst" "0" "02325" "GRIA2_000024" "g.158262477T>G" "" "" "" "GRIA2(NM_000826.6):c.1906T>G (p.S636A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157341325T>G" "" "likely pathogenic" "" "0000719806" "0" "50" "4" "158281124" "158281124" "subst" "0" "02329" "GRIA2_000025" "g.158281124C>T" "" "" "" "GRIA2(NM_001083619.1):c.2120C>T (p.T707M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801558" "0" "50" "4" "158224719" "158224719" "subst" "0" "02325" "GRIA2_000026" "g.158224719C>T" "" "" "" "GRIA2(NM_001083619.3):c.245C>T (p.S82L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000833353" "0" "90" "4" "158283964" "158283964" "subst" "0" "00006" "GRIA2_000027" "g.158283964C>T" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "" "g.157362812C>T" "" "pathogenic (dominant)" "" "0000833374" "0" "90" "4" "156351739" "158983901" "del" "0" "00006" "GRIA2_000028" "g.(?_156351739)_(158983901_?)del" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "4q32.1del (156,351,739-158,983,901)x1dn" "" "" "pathogenic (dominant)" "" "0000833375" "0" "90" "4" "156351739" "158983901" "del" "0" "00006" "GRIA2_000028" "g.(?_156351739)_(158983901_?)del" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "4q32.1del (156,351,739-158,983,901)x1dn" "" "" "pathogenic (dominant)" "" "0000833376" "0" "90" "4" "156351739" "158271008" "del" "0" "00006" "GRIA2_000029" "g.156351739_158271008del" "" "{PMID:Salpietro 2019:31300657}" "" "" "" "De novo" "" "" "0" "" "4q32.1del (156,351,739-158,271,008)x1dn" "" "" "pathogenic (dominant)" "" "0000850559" "0" "50" "4" "158142211" "158142211" "subst" "8.12532E-6" "02325" "GRIA2_000030" "g.158142211A>G" "" "" "" "GRIA2(NM_001083619.3):c.17A>G (p.H6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850560" "0" "70" "4" "158282702" "158282702" "subst" "0" "02327" "GRIA2_000033" "g.158282702T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859273" "0" "50" "4" "158254004" "158254004" "subst" "0" "01804" "GRIA2_000031" "g.158254004G>A" "" "" "" "GRIA2(NM_000826.3):c.916G>A (p.(Val306Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859274" "0" "70" "4" "158262472" "158262472" "subst" "0" "02329" "GRIA2_000032" "g.158262472T>C" "" "" "" "GRIA2(NM_001083619.3):c.1901T>C (p.I634T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912075" "0" "30" "4" "158224865" "158224865" "subst" "4.06669E-5" "02325" "GRIA2_000034" "g.158224865G>A" "" "" "" "GRIA2(NM_001083619.3):c.391G>A (p.D131N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976179" "0" "50" "4" "158168360" "158168360" "subst" "0" "01804" "GRIA2_000035" "g.158168360C>T" "" "" "" "GRIA2(NM_001083619.3):c.229+25401C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994157" "0" "50" "4" "158254130" "158254130" "subst" "0" "01804" "GRIA2_000036" "g.158254130C>T" "" "" "" "GRIA2(NM_001083619.1):c.1042C>T (p.(Leu348Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994158" "0" "30" "4" "158254465" "158254465" "subst" "0" "01804" "GRIA2_000037" "g.158254465C>A" "" "" "" "GRIA2(NM_001083619.1):c.1115C>A (p.(Thr372Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994159" "0" "50" "4" "158262606" "158262606" "subst" "0" "01804" "GRIA2_000038" "g.158262606T>C" "" "" "" "GRIA2(NM_001083619.1):c.2035T>C (p.(Phe679Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994160" "0" "70" "4" "158283963" "158283963" "subst" "0" "01804" "GRIA2_000039" "g.158283963G>A" "" "" "" "GRIA2(NM_001083619.1):c.2419G>A (p.(Ala807Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013942" "0" "50" "4" "158224847" "158224847" "subst" "0" "02325" "GRIA2_000040" "g.158224847G>A" "" "" "" "GRIA2(NM_001083619.3):c.373G>A (p.V125I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013943" "0" "70" "4" "158257019" "158257019" "subst" "0" "02327" "GRIA2_000041" "g.158257019T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034410" "0" "50" "4" "158141811" "158141813" "del" "0" "01804" "GRIA2_000042" "g.158141811_158141813del" "" "" "" "GRIA2(NM_001083620.3):c.-120_-118del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034411" "0" "50" "4" "158141835" "158141836" "dup" "0" "01804" "GRIA2_000043" "g.158141835_158141836dup" "" "" "" "GRIA2(NM_001083620.3):c.-96_-95dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034412" "0" "70" "4" "158224731" "158224732" "del" "0" "01804" "GRIA2_000044" "g.158224731_158224732del" "" "" "" "GRIA2(NM_001083619.3):c.257_258del (p.(Tyr86Cysfs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GRIA2 ## Count = 49 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000255223" "00025680" "30" "2407" "-9" "2407" "-9" "c.2407-9A>G" "r.(=)" "p.(=)" "" "0000330155" "00025680" "50" "905" "0" "905" "0" "c.905A>G" "r.(?)" "p.(Asp302Gly)" "" "0000474847" "00025680" "90" "2363" "0" "2363" "0" "c.2363G>T" "r.(?)" "p.(Trp788Leu)" "" "0000474848" "00025680" "90" "1582" "0" "1590" "0" "c.1582_1590del" "r.(?)" "p.(Pro528_Lys530del)" "" "0000474849" "00025680" "90" "1831" "0" "1831" "0" "c.1831G>A" "r.(?)" "p.(Asp611Asn)" "" "0000474850" "00025680" "90" "1825" "0" "1825" "0" "c.1825G>A" "r.(?)" "p.(Gly609Arg)" "" "0000474851" "00025680" "90" "905" "0" "905" "0" "c.905A>G" "r.(?)" "p.(Asp302Gly)" "" "0000474852" "00025680" "90" "2375" "0" "2375" "0" "c.2375G>T" "r.(?)" "p.(Gly792Val)" "" "0000474861" "00025680" "90" "1582" "0" "1582" "0" "c.1582C>A" "r.(?)" "p.(Pro528Thr)" "" "0000474864" "00025680" "90" "1785" "0" "1785" "0" "c.1785del" "r.(?)" "p.(Phe595Leufs*37)" "" "0000474865" "00025680" "90" "1844" "1" "1844" "1" "c.1844+1G>A" "r.spl" "p.?" "" "0000474867" "00025680" "90" "857" "0" "857" "0" "c.857del" "r.(?)" "p.(Pro286Leufs*14)" "" "0000474868" "00025680" "90" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Thr646Asn)" "" "0000474871" "00025680" "90" "1932" "0" "1932" "0" "c.1932C>A" "r.(?)" "p.(Phe644Leu)" "" "0000474873" "00025680" "90" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Gly47Glu)" "" "0000474874" "00025680" "90" "1939" "0" "1939" "0" "c.1939G>C" "r.(?)" "p.(Val647Leu)" "" "0000474875" "00025680" "90" "1915" "0" "1915" "0" "c.1915G>T" "r.(?)" "p.(Ala639Ser)" "" "0000474877" "00025680" "90" "1939" "0" "1939" "0" "c.1939G>C" "r.(?)" "p.(Val647Leu)" "" "0000474881" "00025680" "90" "967" "0" "967" "0" "c.967C>T" "r.(?)" "p.(Arg323*)" "" "0000474882" "00025680" "90" "1915" "0" "1915" "0" "c.1915G>T" "r.(?)" "p.(Ala639Ser)" "" "0000474883" "00025680" "90" "1939" "0" "1939" "0" "c.1939G>C" "r.(?)" "p.(Val647Leu)" "" "0000474884" "00025680" "90" "2435" "0" "2435" "0" "c.2435A>G" "r.(?)" "p.(Asn812Ser)" "" "0000474885" "00025680" "90" "2328" "0" "2328" "0" "c.2328G>T" "r.(?)" "p.(Glu776Asp)" "" "0000474886" "00025680" "90" "1939" "0" "1939" "0" "c.1939G>C" "r.(?)" "p.(Val647Leu)" "" "0000474895" "00025680" "90" "1819" "0" "1819" "0" "c.1819C>G" "r.(?)" "p.(Gln607Glu)" "" "0000474896" "00025680" "90" "88" "2" "88" "2" "c.88+2T>C" "r.spl" "p.?" "" "0000521921" "00025680" "50" "2406" "457" "2406" "457" "c.2406+457G>A" "r.(=)" "p.(=)" "" "0000655115" "00025680" "70" "1906" "0" "1906" "0" "c.1906T>G" "r.(?)" "p.(Ser636Ala)" "" "0000719806" "00025680" "50" "2120" "0" "2120" "0" "c.2120C>T" "r.(?)" "p.(Thr707Met)" "" "0000801558" "00025680" "50" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Ser82Leu)" "" "0000833353" "00025680" "90" "2420" "0" "2420" "0" "c.2420C>T" "r.(?)" "p.(Ala807Val)" "" "0000833374" "00025680" "90" "0" "0" "0" "0" "c.-459_*2644{0}" "r.0" "p.0" "_1_15_" "0000833375" "00025680" "90" "0" "0" "0" "0" "c.-459_*2644{0}" "r.0" "p.0" "_1_15_" "0000833376" "00025680" "90" "0" "0" "0" "0" "c.-459_(2043+8394_?){0}" "r.?" "p.?" "_1_12i_" "0000850559" "00025680" "50" "17" "0" "17" "0" "c.17A>G" "r.(?)" "p.(His6Arg)" "" "0000850560" "00025680" "70" "2406" "426" "2406" "426" "c.2406+426T>A" "r.(=)" "p.(=)" "" "0000859273" "00025680" "50" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Val306Met)" "" "0000859274" "00025680" "70" "1901" "0" "1901" "0" "c.1901T>C" "r.(?)" "p.(Ile634Thr)" "" "0000912075" "00025680" "30" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Asp131Asn)" "" "0000976179" "00025680" "50" "229" "25401" "229" "25401" "c.229+25401C>T" "r.(=)" "p.(=)" "" "0000994157" "00025680" "50" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Leu348Phe)" "" "0000994158" "00025680" "30" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Thr372Lys)" "" "0000994159" "00025680" "50" "2035" "0" "2035" "0" "c.2035T>C" "r.(?)" "p.(Phe679Leu)" "" "0000994160" "00025680" "70" "2419" "0" "2419" "0" "c.2419G>A" "r.(?)" "p.(Ala807Thr)" "" "0001013942" "00025680" "50" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Val125Ile)" "" "0001013943" "00025680" "70" "1463" "0" "1463" "0" "c.1463T>C" "r.(?)" "p.(Leu488Pro)" "" "0001034410" "00025680" "50" "-384" "0" "-382" "0" "c.-384_-382del" "r.(?)" "p.(=)" "" "0001034411" "00025680" "50" "-360" "0" "-359" "0" "c.-360_-359dup" "r.(?)" "p.(=)" "" "0001034412" "00025680" "70" "257" "0" "258" "0" "c.257_258del" "r.(?)" "p.(Tyr86Cysfs*7)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000232435" "0000474847" "0000232442" "0000474848" "0000232443" "0000474849" "0000232444" "0000474850" "0000232445" "0000474851" "0000232446" "0000474852" "0000232454" "0000474861" "0000232457" "0000474864" "0000232459" "0000474865" "0000232461" "0000474867" "0000232462" "0000474868" "0000232464" "0000474871" "0000232466" "0000474873" "0000232467" "0000474874" "0000232469" "0000474875" "0000232470" "0000474877" "0000232474" "0000474881" "0000232475" "0000474882" "0000232476" "0000474883" "0000232477" "0000474884" "0000232478" "0000474885" "0000232479" "0000474886" "0000232486" "0000474895" "0000232487" "0000474896" "0000400462" "0000833353" "0000400483" "0000833374" "0000400484" "0000833375" "0000400485" "0000833376"