### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRIN2C) # 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}}" "GRIN2C" "glutamate receptor, ionotropic, N-methyl D-aspartate 2C" "17" "q25.1" "unknown" "NC_000017.10" "UD_132610922105" "" "https://www.LOVD.nl/GRIN2C" "" "1" "4587" "2905" "138254" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GRIN2C_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-22 09:25:36" "00006" "2024-12-03 16:31:26" ## 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}}" "00025529" "GRIN2C" "transcript variant 1" "002" "NM_000835.4" "" "NP_000826.2" "" "" "" "-156" "4114" "3702" "72856007" "72838162" "00006" "2020-06-22 09:27:59" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00458161" "" "" "" "1" "" "00006" "{PMID:Jurkute 2021:33938912}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam6PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00458161" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000346597" "05611" "00458161" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., childhood onset; >7y-optic atrophy; no hearing impairment; ataxia/balance problems (childhood); sensory neuropathy (childhood); no motor neuropathy; no dizziness; no tremor; 7y-no retinal dystrophy; no macula edema; no retinal vessels attenuation; 18y-cataract; >7y-nystagmus; no squint" "" "" "" "" "" "" "MMDS9B" "bilateral optic atrophy" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000459782" "00458161" "1" "00006" "00006" "2024-12-03 16:21:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 9 "{{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}}" "0000325603" "0" "50" "17" "72839107" "72839107" "subst" "0.00022242" "01804" "GRIN2C_000001" "g.72839107G>C" "" "" "" "GRIN2C(NM_000835.3):c.3169C>G (p.(Pro1057Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74842968G>C" "" "VUS" "" "0000325604" "0" "50" "17" "72839545" "72839545" "subst" "0.00246149" "01804" "GRIN2C_000002" "g.72839545T>G" "" "" "" "GRIN2C(NM_000835.3):c.2731A>C (p.(Ser911Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74843406T>G" "" "VUS" "" "0000325606" "0" "50" "17" "72860158" "72860158" "subst" "0.00180551" "01804" "FDXR_000007" "g.72860158G>A" "" "" "" "FDXR(NM_001258012.2):c.1163C>T (p.(Thr388Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74864036G>A" "" "VUS" "" "0000562970" "0" "30" "17" "72838858" "72838858" "subst" "0" "01943" "TMEM104_000004" "g.72838858C>G" "" "" "" "GRIN2C(NM_000835.5):c.3418G>C (p.A1140P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74842719C>G" "" "likely benign" "" "0000616801" "0" "50" "17" "72838817" "72838822" "del" "0" "01943" "TMEM104_000006" "g.72838817_72838822del" "" "" "" "GRIN2C(NM_000835.5):c.3463_3468delGCCCAC (p.A1155_H1156del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74842678_74842683del" "" "VUS" "" "0000623760" "0" "30" "17" "72838653" "72838653" "subst" "0" "01943" "TMEM104_000005" "g.72838653C>T" "" "" "" "GRIN2C(NM_000835.5):c.3623G>A (p.S1208N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74842514C>T" "" "likely benign" "" "0000865483" "0" "30" "17" "72860400" "72860400" "subst" "0.00217297" "01943" "FDXR_000008" "g.72860400G>A" "" "" "" "FDXR(NM_001258012.3):c.1001C>T (p.A334V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003643" "0" "50" "17" "72859345" "72859345" "del" "0" "01804" "FDXR_000011" "g.72859345del" "" "" "" "FDXR(NM_001258012.1):c.1328delA (p.(Lys443fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017920" "1" "70" "17" "72814755" "72884308" "del" "0" "00006" "FDXR_000037" "g.72814755_72884308del" "" "{PMID:Jurkute 2021:33938912}" "" "chr17 74818633-74888183del" "" "Germline" "" "" "0" "" "" "g.74818633_74888183del" "" "likely pathogenic (recessive)" "" ## 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 GRIN2C ## Count = 9 "{{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}}" "0000325603" "00025529" "50" "3169" "0" "3169" "0" "c.3169C>G" "r.(?)" "p.(Pro1057Ala)" "" "0000325604" "00025529" "50" "2731" "0" "2731" "0" "c.2731A>C" "r.(?)" "p.(Ser911Arg)" "" "0000325606" "00025529" "50" "-4307" "0" "-4307" "0" "c.-4307C>T" "r.(?)" "p.(=)" "" "0000562970" "00025529" "30" "3418" "0" "3418" "0" "c.3418G>C" "r.(?)" "p.(Ala1140Pro)" "" "0000616801" "00025529" "50" "3463" "0" "3468" "0" "c.3463_3468del" "r.(?)" "p.(Ala1155_His1156del)" "" "0000623760" "00025529" "30" "3623" "0" "3623" "0" "c.3623G>A" "r.(?)" "p.(Ser1208Asn)" "" "0000865483" "00025529" "30" "-4549" "0" "-4549" "0" "c.-4549C>T" "r.(?)" "p.(=)" "" "0001003643" "00025529" "50" "-3493" "0" "-3493" "0" "c.-3493del" "r.(?)" "p.(=)" "" "0001017920" "00025529" "70" "-28457" "0" "27521" "0" "c.-28457_*23819del" "r.0" "p.0" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000459782" "0001017920"