### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LINS)
# 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}}"
"LINS" "lines homolog (Drosophila)" "15" "q26.3" "unknown" "NC_000015.9" "UD_132378475083" "" "https://www.LOVD.nl/LINS1" "" "1" "30922" "55180" "610350" "1" "1" "1" "1" "NOTE: gene name changed from LINS to LINS1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from LINS to LINS1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-11-28 09:22:43" "00000" "2024-08-28 13:16:32"
## 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}}"
"00011413" "LINS" "transcript variant 6" "001" "NM_001040616.2" "" "NP_001035706.1" "" "" "" "-223" "2289" "2274" "101142445" "101109428" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{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"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"03611" "MRT27" "mental retardation, autosomal recessive, type 27 (MRT-27)" "AR" "614340" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11"
"05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"LINS" "03611"
"LINS" "04147"
## Individuals ## Do not remove or alter this header ##
## Count = 9
"{{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}}"
"00291157" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291158" "" "" "" "205" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00303015" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat60"
"00304456" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00387740" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M252"
"00387756" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Kurd" "M327"
"00391595" "" "" "" "2" "" "02494" "family, 2 affected" "" "M" "no" "Spain" "" "0" "" "" "" "034P1"
"00391596" "" "" "00391595" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "034P2"
"00426132" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "10DK7200"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 9
"{{individualid}}" "{{diseaseid}}"
"00291157" "00198"
"00291158" "00198"
"00303015" "05521"
"00304456" "00198"
"00387740" "00139"
"00387756" "00139"
"00391595" "03611"
"00391596" "03611"
"00426132" "00139"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03611, 04147, 05521
## Count = 4
"{{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/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000230098" "05521" "00303015" "00006" "Familial, autosomal recessive" "" "Unclassified epilepsy; age onset unknown" "" "" "" "" "" "" "" "" "" "MRT27" "seizures" ""
"0000281308" "00139" "00387740" "00006" "Familial, autosomal recessive" "" "non-syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000281324" "00139" "00387756" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000317282" "00139" "00426132" "00006" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "" "MRT27" "intellectual disability" ""
## Screenings ## Do not remove or alter this header ##
## Count = 9
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000292325" "00291157" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292326" "00291158" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000304140" "00303015" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES"
"0000305585" "00304456" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000388971" "00387740" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000388987" "00387756" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000392837" "00391595" "1" "02494" "02494" "2021-11-18 12:50:56" "" "" "SEQ-NG" "DNA" "" "WES"
"0000392838" "00391596" "1" "02494" "02494" "2021-11-18 13:12:52" "" "" "SEQ-NG" "DNA" "" "WES"
"0000427452" "00426132" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000304140" "LINS"
## 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 = 23
"{{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}}"
"0000290995" "0" "90" "15" "101110112" "101110112" "subst" "4.10516E-6" "01943" "LINS_000001" "g.101110112C>T" "" "" "" "LINS(NM_001040616.2):c.1605G>A (p.W535*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100569907C>T" "" "pathogenic" ""
"0000553553" "0" "30" "15" "101109598" "101109598" "subst" "0.000637641" "01804" "LINS_000002" "g.101109598C>T" "" "" "" "LINS(NM_001040616.2):c.2119G>A (p.(Gly707Arg)), LINS1(NM_001040616.2):c.2119G>A (p.G707R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100569393C>T" "" "likely benign" ""
"0000553554" "0" "30" "15" "101109598" "101109598" "subst" "0.000637641" "01943" "LINS_000002" "g.101109598C>T" "" "" "" "LINS(NM_001040616.2):c.2119G>A (p.(Gly707Arg)), LINS1(NM_001040616.2):c.2119G>A (p.G707R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100569393C>T" "" "likely benign" ""
"0000553556" "0" "30" "15" "101109904" "101109904" "subst" "0.00275342" "01943" "LINS_000005" "g.101109904T>C" "" "" "" "LINS1(NM_001040616.2):c.1813A>G (p.M605V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100569699T>C" "" "likely benign" ""
"0000553558" "0" "30" "15" "101113954" "101113954" "subst" "0.000544556" "01943" "LINS_000007" "g.101113954G>A" "" "" "" "LINS(NM_001040616.2):c.1124C>T (p.(Thr375Ile)), LINS1(NM_001040616.2):c.1124C>T (p.T375I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100573749G>A" "" "likely benign" ""
"0000553559" "0" "30" "15" "101113954" "101113954" "subst" "0.000544556" "01804" "LINS_000007" "g.101113954G>A" "" "" "" "LINS(NM_001040616.2):c.1124C>T (p.(Thr375Ile)), LINS1(NM_001040616.2):c.1124C>T (p.T375I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100573749G>A" "" "likely benign" ""
"0000649014" "1" "30" "15" "101109683" "101109683" "subst" "0.0174776" "03575" "LINS_000009" "g.101109683T>C" "17/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs1047320}" "Germline" "" "rs1047320" "0" "" "" "g.100569478T>C" "" "likely benign" ""
"0000649015" "1" "10" "15" "101110096" "101110096" "subst" "0.0429175" "03575" "LINS_000006" "g.101110096T>C" "205/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "205 heterozygous; {DB:CLININrs12915007}" "Germline" "" "rs12915007" "0" "" "" "g.100569891T>C" "" "benign" ""
"0000667538" "1" "70" "15" "101112098" "101112098" "subst" "0" "00006" "LINS_000011" "g.101112098C>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.100571893C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000667590" "2" "70" "15" "101109697" "101109697" "dup" "0" "00006" "LINS_000010" "g.101109697dup" "" "{PMID:Helbig 2016:26795593}" "" "2020dupA" "" "Germline" "" "" "0" "" "" "g.100569492dup" "" "likely pathogenic (recessive)" "ACMG"
"0000669273" "3" "10" "15" "101110096" "101110096" "subst" "0.0429175" "03575" "LINS_000006" "g.101110096T>C" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs12915007}" "Germline" "" "rs12915007" "0" "" "" "g.100569891T>C" "" "benign" ""
"0000724947" "0" "30" "15" "101109808" "101109808" "subst" "2.44039E-5" "01943" "LINS_000012" "g.101109808C>T" "" "" "" "LINS1(NM_001352507.1):c.1162G>A (p.V388M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724948" "0" "30" "15" "101120736" "101120736" "subst" "6.10685E-5" "01943" "LINS_000013" "g.101120736C>T" "" "" "" "LINS1(NM_001040616.2):c.312G>A (p.L104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000806560" "0" "30" "15" "101113884" "101113884" "subst" "0.00212004" "01943" "LINS_000014" "g.101113884T>C" "" "" "" "LINS1(NM_001352507.1):c.447A>G (p.Q149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000817764" "3" "90" "15" "101114094" "101114097" "del" "0" "00006" "LINS_000015" "g.101114094_101114097del" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.100573889_100573892del" "" "pathogenic (recessive)" "ACMG"
"0000817780" "3" "90" "15" "101120983" "101120983" "del" "0" "00006" "LINS_000016" "g.101120983del" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.100580778del" "" "pathogenic (recessive)" "ACMG"
"0000823303" "21" "70" "15" "101114160" "101114160" "subst" "0" "02494" "LINS_000017" "g.101114160G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000823304" "11" "50" "15" "101110125" "101110125" "subst" "8.34411E-6" "02494" "LINS_000018" "g.101110125A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" ""
"0000823305" "21" "50" "15" "101114160" "101114160" "subst" "0" "02494" "LINS_000017" "g.101114160G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000823306" "11" "70" "15" "101110125" "101110125" "subst" "8.34411E-6" "02494" "LINS_000018" "g.101110125A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" ""
"0000904812" "3" "70" "15" "101110188" "101110188" "subst" "0" "00006" "LINS_000020" "g.101110188A>G" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.100569983A>G" "" "VUS" ""
"0000904887" "3" "70" "15" "101110183" "101110183" "subst" "0" "00006" "LINS_000019" "g.101110183A>C" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.100569978A>C" "" "VUS" ""
"0001001242" "0" "50" "15" "101110183" "101110183" "del" "0" "01804" "LINS_000021" "g.101110183del" "" "" "" "LINS(NM_001040616.2):c.1538delT (p.(Leu513fs))" "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 LINS
## Count = 23
"{{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}}"
"0000290995" "00011413" "90" "1605" "0" "1605" "0" "c.1605G>A" "r.(?)" "p.(Trp535Ter)" ""
"0000553553" "00011413" "30" "2119" "0" "2119" "0" "c.2119G>A" "r.(?)" "p.(Gly707Arg)" ""
"0000553554" "00011413" "30" "2119" "0" "2119" "0" "c.2119G>A" "r.(?)" "p.(Gly707Arg)" ""
"0000553556" "00011413" "30" "1813" "0" "1813" "0" "c.1813A>G" "r.(?)" "p.(Met605Val)" ""
"0000553558" "00011413" "30" "1124" "0" "1124" "0" "c.1124C>T" "r.(?)" "p.(Thr375Ile)" ""
"0000553559" "00011413" "30" "1124" "0" "1124" "0" "c.1124C>T" "r.(?)" "p.(Thr375Ile)" ""
"0000649014" "00011413" "30" "2034" "0" "2034" "0" "c.2034A>G" "r.(=)" "p.(=)" ""
"0000649015" "00011413" "10" "1621" "0" "1621" "0" "c.1621A>G" "r.(?)" "p.(Ile541Val)" ""
"0000667538" "00011413" "70" "1394" "1" "1394" "1" "c.1394+1G>T" "r.spl" "p.?" ""
"0000667590" "00011413" "70" "2020" "0" "2020" "0" "c.2020dup" "r.(?)" "p.(Ser674Lysfs*3)" ""
"0000669273" "00011413" "10" "1621" "0" "1621" "0" "c.1621A>G" "r.(?)" "p.(Ile541Val)" ""
"0000724947" "00011413" "30" "1909" "0" "1909" "0" "c.1909G>A" "r.(?)" "p.(Val637Met)" ""
"0000724948" "00011413" "30" "312" "0" "312" "0" "c.312G>A" "r.(?)" "p.(Leu104=)" ""
"0000806560" "00011413" "30" "1194" "0" "1194" "0" "c.1194A>G" "r.(?)" "p.(Gln398=)" ""
"0000817764" "00011413" "90" "982" "0" "985" "0" "c.982_985del" "r.(?)" "p.(His328MetfsTer2)" ""
"0000817780" "00011413" "90" "68" "0" "68" "0" "c.68del" "r.(?)" "p.(Asn23MetfsTer25)" ""
"0000823303" "00011413" "70" "918" "0" "918" "0" "c.918C>A" "r.(?)" "p.(Cys306*)" ""
"0000823304" "00011413" "50" "1592" "0" "1592" "0" "c.1592T>C" "r.(?)" "p.(Leu531Pro)" ""
"0000823305" "00011413" "50" "918" "0" "918" "0" "c.918C>A" "r.(?)" "p.(Cys306*)" ""
"0000823306" "00011413" "70" "1592" "0" "1592" "0" "c.1592T>C" "r.(?)" "p.(Leu531Pro)" ""
"0000904812" "00011413" "70" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Leu510Pro)" ""
"0000904887" "00011413" "70" "1534" "0" "1534" "0" "c.1534T>G" "r.(?)" "p.(Phe512Val)" ""
"0001001242" "00011413" "50" "1538" "0" "1538" "0" "c.1538del" "r.(?)" "p.(Leu513*)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 13
"{{screeningid}}" "{{variantid}}"
"0000292325" "0000649014"
"0000292326" "0000649015"
"0000304140" "0000667538"
"0000304140" "0000667590"
"0000305585" "0000669273"
"0000388971" "0000817764"
"0000388987" "0000817780"
"0000392837" "0000823303"
"0000392837" "0000823304"
"0000392838" "0000823305"
"0000392838" "0000823306"
"0000427452" "0000904812"
"0000427452" "0000904887"