### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MARCH6) # 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}}" "MARCH6" "membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase" "5" "p15.2" "unknown" "NC_000005.9" "UD_136088375144" "" "https://www.LOVD.nl/MARCH6" "" "1" "30550" "10299" "613297" "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/MARCH6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-19 15:12:31" "00000" "2020-06-16 18:01:04" ## 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}}" "00011813" "MARCH6" "transcript variant 1" "001" "NM_005885.3" "" "NP_005876.2" "" "" "" "-260" "9437" "2733" "10353751" "10440500" "" "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" "" "" "05408" "FAME" "epilepsy, myoclonic, familial adult (FAME)" "" "" "" "autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course" "alias familial essential myoclonus and epilepsy; cortical tremor; benign adult familial myoclonic epilepsy (BAFME); familial adult myoclonic epilepsy (FAME); autosomal dominant cortical tremor, myoclonus and epilepsy; familial cortical myoclonic tremor with epilepsy (FCMTE)" "00006" "2018-03-18 16:17:05" "00006" "2021-10-25 15:27:58" "05587" "FAME3;FMCTE3" "epilepsy, myoclonic, familial adult, type 3 (FAME3, FMCTE3)" "AD" "613608" "" "autosomal dominant" "" "00006" "2019-04-10 21:07:01" "00006" "2019-12-19 19:06:19" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MARCH6" "05408" "MARCH6" "05587" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00229779" "" "" "" "18" "" "00006" "{PMID:van Rootselaar 2017:29127138}, {PMID:Florion 2019:31664039}" "5-generation family, 18 affected" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamFMTCE3/Fam3" "00271452" "" "" "" "4" "" "00006" "{PMID:Florion 2019:31664039}" "analysis 82 controls" "" "" "" "" "0" "" "" "" "control" "00271453" "" "" "" "2" "" "00006" "{PMID:Florion 2019:31664039}" "analysis 82 controls" "" "" "" "" "0" "" "" "" "control" "00271454" "" "" "" "15" "" "00006" "{PMID:Florion 2019:31664039}" "analysis 82 controls" "" "" "" "" "0" "" "" "" "control" "00271455" "" "" "" "34" "" "00006" "{PMID:Florion 2019:31664039}" "analysis 82 controls" "" "" "" "" "0" "" "" "" "control" "00271456" "" "" "" "66" "" "00006" "{PMID:Florion 2019:31664039}" "analysis 82 controls" "" "" "" "" "0" "" "" "" "control" "00271457" "" "" "" "29" "" "00006" "{PMID:Florion 2019:31664039}" "analysis 82 controls" "" "" "" "" "0" "" "" "" "control" "00271458" "" "" "" "5" "" "00006" "{PMID:Florion 2019:31664039}" "analysis 82 controls" "" "" "" "" "0" "" "" "" "control" "00271459" "" "" "" "5" "" "00006" "{PMID:Florion 2019:31664039}" "analysis 82 controls" "" "" "" "" "0" "" "" "" "control" "00271460" "" "" "" "2" "" "00006" "{PMID:Florion 2019:31664039}" "analysis 82 controls" "" "" "" "" "0" "" "" "" "control" "00271461" "" "" "" "1" "" "00006" "{PMID:Florion 2019:31664039}" "analysis 82 controls" "" "" "" "" "0" "" "" "" "control" "00271462" "" "" "" "1" "" "00006" "{PMID:Florion 2019:31664039}" "analysis 82 controls" "" "" "" "" "0" "" "" "" "control" "00271463" "" "" "" "17" "" "00006" "{PMID:Florion 2019:31664039}" "5-generation family, 17 affected (6F, 11M)" "F;M" "" "France" "" "0" "" "" "" "Fam1" "00271464" "" "" "" "9" "" "00006" "{PMID:Florion 2019:31664039}" "6-generation family, 9 affected (2F, 7M)" "F;M" "" "France" "" "0" "" "" "" "Fam2" "00271465" "" "" "" "3" "" "00006" "{PMID:Florion 2019:31664039}" "4-generation family, 3 affected (3M)" "M" "" "Germany" "" "0" "" "" "" "Fam4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00229779" "05408" "00271452" "00000" "00271453" "00000" "00271454" "00000" "00271455" "00000" "00271456" "00000" "00271457" "00000" "00271458" "00000" "00271459" "00000" "00271460" "00000" "00271461" "00000" "00271462" "00000" "00271463" "05408" "00271464" "05408" "00271465" "05408" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 05408, 05587 ## Count = 4 "{{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}}" "0000172985" "05408" "00229779" "00006" "Familial, autosomal dominant" "" "see paper; ..., tremulous movements, either in combination with electrophysiologic features of cortical reflex myoclonus including giant-somatosensory evoked potential and long latency reflex, or in combination with history of generalized epileptic seizures, and exclusion of other causes of tremor/myoclonus/epilepsy" "" "" "" "" "" "" "" "FAME3" "FMCTE" "0000208059" "05408" "00271463" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "FAME3" "familial adult myoclonic epilepsy" "0000208060" "05408" "00271464" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "FAME3" "familial adult myoclonic epilepsy" "0000208061" "05408" "00271465" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "FAME3" "familial adult myoclonic epilepsy" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000230872" "00229779" "1" "00006" "00006" "2019-04-10 20:30:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000272605" "00271452" "1" "00006" "00006" "2019-12-19 15:38:10" "" "" "SEQ" "DNA" "" "" "0000272606" "00271453" "1" "00006" "00006" "2019-12-19 15:38:10" "" "" "SEQ" "DNA" "" "" "0000272607" "00271454" "1" "00006" "00006" "2019-12-19 15:38:10" "" "" "SEQ" "DNA" "" "" "0000272608" "00271455" "1" "00006" "00006" "2019-12-19 15:38:10" "" "" "SEQ" "DNA" "" "" "0000272609" "00271456" "1" "00006" "00006" "2019-12-19 15:38:10" "" "" "SEQ" "DNA" "" "" "0000272610" "00271457" "1" "00006" "00006" "2019-12-19 15:38:10" "" "" "SEQ" "DNA" "" "" "0000272611" "00271458" "1" "00006" "00006" "2019-12-19 15:38:10" "" "" "SEQ" "DNA" "" "" "0000272612" "00271459" "1" "00006" "00006" "2019-12-19 15:38:10" "" "" "SEQ" "DNA" "" "" "0000272613" "00271460" "1" "00006" "00006" "2019-12-19 15:38:10" "" "" "SEQ" "DNA" "" "" "0000272614" "00271461" "1" "00006" "00006" "2019-12-19 15:38:10" "" "" "SEQ" "DNA" "" "" "0000272615" "00271462" "1" "00006" "00006" "2019-12-19 15:38:10" "" "" "SEQ" "DNA" "" "" "0000272617" "00271463" "1" "00006" "00006" "2019-12-19 15:57:44" "" "" "PCRrp" "DNA" "" "" "0000272618" "00271464" "1" "00006" "00006" "2019-12-19 15:57:44" "" "" "PCRrp" "DNA" "" "" "0000272619" "00271465" "1" "00006" "00006" "2019-12-19 15:57:44" "" "" "PCRrp" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000230872" "CTNND2" "0000272605" "MARCH6" "0000272606" "MARCH6" "0000272607" "MARCH6" "0000272608" "MARCH6" "0000272609" "MARCH6" "0000272610" "MARCH6" "0000272611" "MARCH6" "0000272612" "MARCH6" "0000272613" "MARCH6" "0000272614" "MARCH6" "0000272615" "MARCH6" "0000272617" "MARCH6" "0000272618" "MARCH6" "0000272619" "MARCH6" ## 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 = 17 "{{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}}" "0000330260" "0" "50" "5" "10442371" "10442371" "subst" "0" "01804" "ROPN1L_000001" "g.10442371T>C" "" "" "" "ROPN1L(NM_001201466.1):c.92T>C (p.(Ile31Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10442259T>C" "" "VUS" "" "0000472550" "1" "90" "5" "0" "0" "" "0" "00006" "MARCH6_000004" "g.10356459_10356523ATTTT[(20_?)]ATTTC[(20_?)]" "" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[(20_?)]ATTTC[(20_?)]" "" "pathogenic (dominant)" "" "0000523633" "0" "50" "5" "10415612" "10415612" "subst" "0" "01943" "MARCH6_000001" "g.10415612G>A" "" "" "" "MARCH6(NM_005885.4):c.1979G>A (p.R660H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10415500G>A" "" "VUS" "" "0000626536" "1" "10" "5" "10356459" "10356523" "" "0" "00006" "MARCH6_000005" "g.10356459_10356523ATTTT[9]" "4/164 chromosomes" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[9]" "" "benign" "" "0000626537" "1" "10" "5" "10356459" "10356523" "" "0" "00006" "MARCH6_000006" "g.10356459_10356523ATTTT[10]" "2/164 chromosomes" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[10]" "" "benign" "" "0000626538" "1" "10" "5" "10356459" "10356523" "" "0" "00006" "MARCH6_000007" "g.10356459_10356523ATTTT[11]" "15/164 chromosomes" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[11]" "" "benign" "" "0000626539" "1" "10" "5" "10356459" "10356523" "" "0" "00006" "MARCH6_000008" "g.10356459_10356523ATTTT[12]" "34/164 chromosomes" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[12]" "" "benign" "" "0000626540" "1" "10" "5" "10356459" "10356523" "" "0" "00006" "MARCH6_000009" "g.10356459_10356523=" "66/164 chromosomes" "{PMID:Florion 2019:31664039}" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.10356347_10356411=" "" "benign" "" "0000626541" "1" "10" "5" "10356459" "10356523" "" "0" "00006" "MARCH6_000010" "g.10356459_10356523ATTTT[14]" "29/164 chromosomes" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[14]" "" "benign" "" "0000626542" "1" "10" "5" "10356459" "10356523" "" "0" "00006" "MARCH6_000011" "g.10356459_10356523ATTTT[15]" "5/164 chromosomes" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[15]" "" "benign" "" "0000626543" "1" "10" "5" "10356459" "10356523" "" "0" "00006" "MARCH6_000012" "g.10356459_10356523ATTTT[16]" "5/164 chromosomes" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[16]" "" "benign" "" "0000626544" "1" "10" "5" "10356459" "10356523" "" "0" "00006" "MARCH6_000013" "g.10356459_10356523ATTTT[17]" "2/164 chromosomes" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[17]" "" "benign" "" "0000626545" "1" "10" "5" "10356459" "10356523" "" "0" "00006" "MARCH6_000014" "g.10356459_10356523ATTTT[18]" "1/164 chromosomes" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[18]" "" "benign" "" "0000626546" "1" "10" "5" "10356459" "10356523" "" "0" "00006" "MARCH6_000015" "g.10356459_10356523ATTTT[20]" "1/164 chromosomes" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[20]" "" "benign" "" "0000626547" "1" "90" "5" "0" "0" "" "0" "00006" "MARCH6_000002" "g.10356459_10356523ATTTT[(440_670)]ATTTC[(280_800)]" "" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[(440_670)]ATTTC[(280_800)]" "" "pathogenic (dominant)" "" "0000626548" "1" "90" "5" "0" "0" "" "0" "00006" "MARCH6_000003" "g.10356459_10356523ATTTT[(850_950)]ATTTC[(80_180)]" "" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[(850_950)]ATTTC[(80_180)]" "" "pathogenic (dominant)" "" "0000626549" "1" "90" "5" "0" "0" "" "0" "00006" "MARCH6_000004" "g.10356459_10356523ATTTT[(20_?)]ATTTC[(20_?)]" "" "{PMID:Florion 2019:31664039}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10356347_10356411ATTTT[(20_?)]ATTTC[(20_?)]" "" "pathogenic (dominant)" "" ## 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 MARCH6 ## Count = 17 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000330260" "00011813" "50" "11308" "0" "11308" "0" "c.*8575T>C" "r.(=)" "p.(=)" "" "" "0000472550" "00011813" "90" "0" "0" "0" "0" "c.19+2430_19+2494ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ACTTT[exp]" "0000523633" "00011813" "50" "1979" "0" "1979" "0" "c.1979G>A" "r.(?)" "p.(Arg660His)" "" "" "0000626536" "00011813" "10" "19" "2430" "19" "2494" "c.19+2430_19+2494ATTTT[9]" "r.(=)" "p.(=)" "1i" "ATTTT[9]" "0000626537" "00011813" "10" "19" "2430" "19" "2494" "c.19+2430_19+2494ATTTT[10]" "r.(=)" "p.(=)" "1i" "ATTTT[10]" "0000626538" "00011813" "10" "19" "2430" "19" "2494" "c.19+2430_19+2494ATTTT[11]" "r.(=)" "p.(=)" "1i" "ATTTT[11]" "0000626539" "00011813" "10" "19" "2430" "19" "2494" "c.19+2430_19+2494ATTTT[12]" "r.(=)" "p.(=)" "1i" "ATTTT[12]" "0000626540" "00011813" "10" "19" "2430" "19" "2494" "c.19+2430_19+2494ATTTT[13]" "r.(=)" "p.(=)" "1i" "ATTTT[13]" "0000626541" "00011813" "10" "19" "2430" "19" "2494" "c.19+2430_19+2494ATTTT[14]" "r.(=)" "p.(=)" "1i" "ATTTT[14]" "0000626542" "00011813" "10" "19" "2430" "19" "2494" "c.19+2430_19+2494ATTTT[15]" "r.(=)" "p.(=)" "1i" "ATTTT[15]" "0000626543" "00011813" "10" "19" "2430" "19" "2494" "c.19+2430_19+2494ATTTT[16]" "r.(=)" "p.(=)" "1i" "ATTTT[16]" "0000626544" "00011813" "10" "19" "2430" "19" "2494" "c.19+2430_19+2494ATTTT[17]" "r.(=)" "p.(=)" "1i" "ATTTT[17]" "0000626545" "00011813" "10" "19" "2430" "19" "2494" "c.19+2430_19+2494ATTTT[18]" "r.(=)" "p.(=)" "1i" "ATTTT[18]" "0000626546" "00011813" "10" "19" "2430" "19" "2494" "c.19+2430_19+2494ATTTT[20]" "r.(=)" "p.(=)" "1i" "ATTTT[20]" "0000626547" "00011813" "90" "0" "0" "0" "0" "c.19+2430_19+2494ATTTT[(440_670)]ATTTC[(280_800)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ACTTT[exp]" "0000626548" "00011813" "90" "0" "0" "0" "0" "c.19+2430_19+2494ATTTT[(850_950)]ATTTC[(80_180)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ACTTT[exp]" "0000626549" "00011813" "90" "0" "0" "0" "0" "c.19+2430_19+2494ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ACTTT[exp]" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000230872" "0000472550" "0000272605" "0000626536" "0000272606" "0000626537" "0000272607" "0000626538" "0000272608" "0000626539" "0000272609" "0000626540" "0000272610" "0000626541" "0000272611" "0000626542" "0000272612" "0000626543" "0000272613" "0000626544" "0000272614" "0000626545" "0000272615" "0000626546" "0000272617" "0000626547" "0000272618" "0000626548" "0000272619" "0000626549"