### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CACNG2) # 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}}" "CACNG2" "calcium channel, voltage-dependent, gamma subunit 2" "22" "q13.1" "unknown" "NG_031861.1" "UD_134408563928" "" "http://www.LOVD.nl/CACNG2" "" "1" "1406" "10369" "602911" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/CACNG2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-11-14 19:31:24" "00000" "2025-11-01 13:22:20" ## 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}}" "00004258" "CACNG2" "calcium channel, voltage-dependent, gamma subunit 2" "001" "NM_006078.3" "" "NP_006069.1" "" "" "" "-69" "4454" "972" "37098690" "36956916" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00818" "MRD10" "mental retardation, autosomal dominant, type 10 (MRD-10)" "AD" "614256" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CACNG2" "00139" "CACNG2" "00818" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00024270" "" "" "" "1" "" "00006" "{PMID:Hamdan 2011:21376300}" "" "M" "" "Canada" ">08y" "0" "" "" "" "" "00024275" "" "" "" "285" "" "00006" "{PMID:Hamdan 2011:21376300}" "285 controls" "-" "" "Canada" "" "0" "" "" "French" "" "00024276" "" "" "" "50" "" "00006" "{PMID:Hamdan 2011:21376300}" "50 cases" "-" "" "Canada" "" "0" "" "" "French" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00024270" "00139" "00024275" "00000" "00024276" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00818 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000020389" "00139" "00024270" "00006" "Isolated (sporadic)" "" "moderate intellectual disability, no epilepsy, MRI normal, neurological examination normal" "" "" "" "" "" "" "" "" "" "" "0000020394" "00139" "00024276" "00006" "Isolated (sporadic)" "" "nonsyndromic intellectual disability (NSID), no dysmorphic features, birth weight/postnatal growth in normal limits, birth normal head circumference" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000024262" "00024270" "1" "00006" "00006" "2014-11-14 19:36:36" "" "" "SEQ" "DNA" "" "" "0000024267" "00024275" "1" "00006" "00006" "2014-11-15 10:20:14" "" "" "SEQ" "DNA" "" "" "0000024268" "00024276" "1" "00006" "00006" "2014-11-15 10:49:27" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000024262" "CACNG2" "0000024267" "CACNG2" "0000024267" "EPB41L1" "0000024267" "GRIN1" "0000024267" "KIF1A" "0000024268" "CACNG2" "0000024268" "EPB41L1" "0000024268" "GRIN1" "0000024268" "KIF1A" ## 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 = 22 "{{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}}" "0000046857" "0" "90" "22" "36962409" "36962409" "subst" "0" "00006" "CACNG2_000001" "g.36962409C>G" "" "{PMID:Hamdan 2011:21376300}" "" "" "" "De novo" "yes" "" "0" "" "" "g.36566362C>G" "" "pathogenic" "" "0000046858" "0" "90" "22" "36962409" "36962409" "subst" "0" "00006" "CACNG2_000001" "g.36962409C>G" "" "{PMID:Hamdan 2011:21376300}" "" "" "expression cloning in HEK293 cells using coIP shows decreased stargazin binding to GluR1/R2 AMPAR subunits; decreased miniEPSC amplitude\r\nand frequency in transfected hippocampal neurons; reduced cell GluR1 surface expression in transfected hippocampal neurons and HEK293 cells" "In vitro (cloned)" "-" "" "0" "" "" "g.36566362C>G" "" "NA" "" "0000046866" "0" "30" "22" "36960730" "36960730" "subst" "0.000467731" "00006" "CACNG2_000003" "g.36960730C>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36564683C>T" "" "likely benign" "" "0000046867" "0" "30" "22" "36983500" "36983500" "subst" "0.000162459" "00006" "CACNG2_000004" "g.36983500G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36587453G>A" "" "likely benign" "" "0000046868" "0" "30" "22" "36983540" "36983540" "subst" "4.46693E-5" "00006" "CACNG2_000005" "g.36983540G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36587493G>A" "" "likely benign" "" "0000046869" "0" "30" "22" "37098238" "37098238" "subst" "0" "00006" "CACNG2_000006" "g.37098238T>C" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36702193T>C" "" "likely benign" "" "0000046870" "0" "30" "22" "37098244" "37098244" "subst" "0" "00006" "CACNG2_000007" "g.37098244A>T" "4/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs41307225" "0" "" "" "g.36702199A>T" "" "likely benign" "" "0000046871" "0" "10" "22" "36962353" "36962353" "subst" "0.49513" "00006" "CACNG2_000008" "g.36962353C>G" "142/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Unknown" "" "rs2267338" "0" "" "" "g.36566306C>G" "" "benign" "" "0000046950" "1" "30" "22" "36962421" "36962421" "subst" "8.12638E-6" "00006" "CACNG2_000002" "g.36962421C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.36566374C>T" "" "likely benign" "" "0000046964" "1" "30" "22" "36960730" "36960730" "subst" "0.000467731" "00006" "CACNG2_000003" "g.36960730C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.36564683C>T" "" "likely benign" "" "0000046965" "0" "30" "22" "36983500" "36983500" "subst" "0.000162459" "00006" "CACNG2_000004" "g.36983500G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36587453G>A" "" "likely benign" "" "0000046966" "1" "30" "22" "36983540" "36983540" "subst" "4.46693E-5" "00006" "CACNG2_000005" "g.36983540G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.36587493G>A" "" "likely benign" "" "0000046967" "0" "30" "22" "37098238" "37098238" "subst" "0" "00006" "CACNG2_000006" "g.37098238T>C" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.36702193T>C" "" "likely benign" "" "0000046968" "0" "30" "22" "37098244" "37098244" "subst" "0" "00006" "CACNG2_000007" "g.37098244A>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs41307225" "0" "" "" "g.36702199A>T" "" "likely benign" "" "0000046969" "0" "10" "22" "36962353" "36962353" "subst" "0.49513" "00006" "CACNG2_000008" "g.36962353C>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs2267338" "0" "" "" "g.36566306C>G" "" "benign" "" "0000268038" "0" "50" "22" "37098465" "37098465" "subst" "0" "02329" "CACNG2_000009" "g.37098465T>G" "" "" "" "CACNG2(NM_006078.5):c.157A>C (p.K53Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36702420T>G" "" "VUS" "" "0000571910" "0" "50" "22" "36960790" "36960790" "subst" "0" "02327" "CACNG2_000010" "g.36960790C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36564743C>T" "" "VUS" "" "0000571911" "0" "50" "22" "36962523" "36962523" "subst" "8.1275E-6" "02327" "CACNG2_000011" "g.36962523T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36566476T>A" "" "VUS" "" "0000693177" "0" "50" "22" "36960543" "36960543" "subst" "0" "02325" "CACNG2_000012" "g.36960543T>A" "" "" "" "CACNG2(NM_006078.5):c.827A>T (p.D276V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895718" "0" "50" "22" "36960780" "36960780" "subst" "0" "02325" "CACNG2_000013" "g.36960780G>A" "" "" "" "CACNG2(NM_006078.5):c.590C>T (p.A197V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006048" "0" "50" "22" "37098522" "37098522" "subst" "0" "01804" "CACNG2_000014" "g.37098522G>C" "" "" "" "CACNG2(NM_006078.3):c.100C>G (p.(Leu34Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057144" "0" "50" "22" "36983568" "36983568" "subst" "4.06085E-6" "01804" "CACNG2_000015" "g.36983568A>G" "" "" "" "CACNG2(NM_006078.5):c.239T>C (p.(Ile80Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 CACNG2 ## Count = 22 "{{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}}" "0000046857" "00004258" "90" "427" "0" "427" "0" "c.427G>C" "r.(?)" "p.(Val143Leu)" "3" "0000046858" "00004258" "90" "427" "0" "427" "0" "c.427G>C" "r.(?)" "p.Val143Leu" "3" "0000046866" "00004258" "30" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Ala214Thr)" "" "0000046867" "00004258" "30" "295" "12" "295" "12" "c.295+12C>T" "r.(=)" "p.(=)" "i" "0000046868" "00004258" "30" "267" "0" "267" "0" "c.267C>T" "r.(?)" "p.(Tyr89=)" "" "0000046869" "00004258" "30" "211" "173" "211" "173" "c.211+173A>G" "r.(=)" "p.(=)" "i" "0000046870" "00004258" "30" "211" "167" "211" "167" "c.211+167T>A" "r.(=)" "p.(=)" "i" "0000046871" "00004258" "10" "436" "47" "436" "47" "c.436+47G>C" "r.(=)" "p.(=)" "i" "0000046950" "00004258" "30" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Gly139Ser)" "" "0000046964" "00004258" "30" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Ala214Thr)" "" "0000046965" "00004258" "30" "295" "12" "295" "12" "c.295+12C>T" "r.(=)" "p.(=)" "i" "0000046966" "00004258" "30" "267" "0" "267" "0" "c.267C>T" "r.(?)" "p.(Tyr89=)" "" "0000046967" "00004258" "30" "211" "173" "211" "173" "c.211+173A>G" "r.(=)" "p.(=)" "i" "0000046968" "00004258" "30" "211" "167" "211" "167" "c.211+167T>A" "r.(=)" "p.(=)" "i" "0000046969" "00004258" "10" "436" "47" "436" "47" "c.436+47G>C" "r.(=)" "p.(=)" "i" "0000268038" "00004258" "50" "157" "0" "157" "0" "c.157A>C" "r.(?)" "p.(Lys53Gln)" "" "0000571910" "00004258" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Gly194Arg)" "" "0000571911" "00004258" "50" "313" "0" "313" "0" "c.313A>T" "r.(?)" "p.(Ser105Cys)" "" "0000693177" "00004258" "50" "827" "0" "827" "0" "c.827A>T" "r.(?)" "p.(Asp276Val)" "" "0000895718" "00004258" "50" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Ala197Val)" "" "0001006048" "00004258" "50" "100" "0" "100" "0" "c.100C>G" "r.(?)" "p.(Leu34Val)" "" "0001057144" "00004258" "50" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Ile80Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000024262" "0000046857" "0000024267" "0000046866" "0000024267" "0000046867" "0000024267" "0000046868" "0000024267" "0000046869" "0000024267" "0000046870" "0000024267" "0000046871" "0000024268" "0000046950" "0000024268" "0000046964" "0000024268" "0000046965" "0000024268" "0000046966" "0000024268" "0000046967" "0000024268" "0000046968" "0000024268" "0000046969"