### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAPKBP1) # 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}}" "MAPKBP1" "mitogen-activated protein kinase binding protein 1" "15" "q15.1" "unknown" "NC_000015.9" "UD_132438805654" "" "http://www.LOVD.nl/MAPKBP1" "" "1" "29536" "23005" "616786" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/MAPKBP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-11-10 22:17:06" "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}}" "00011799" "MAPKBP1" "transcript variant 1" "002" "NM_014994.2" "" "NP_055809.2" "" "" "" "-286" "6946" "4527" "42066632" "42120053" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "06267" "NPHP20" "Nephronophthisis 20" "AR" "617271" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MAPKBP1" "06267" ## 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}}" "00303354" "" "" "" "1" "" "00006" "Den Hoedt ESHG2020 C02.2, {PMID:Kaplanis 2020:33057194}, {PMID:Den Hoed 2021:33513338}, {DOI:Den Hoed 2021:10.1016/j.ajhg.2021.01.007}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat42" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00303354" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611, 06267 ## 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}}" "0000230431" "05611" "00303354" "00006" "Isolated (sporadic)" "08y09m" "see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; mild intellectual disability; developmental delay, mild; motor delay, mild; speech delay, severe, 6y-no speech; no dysarthria; no epilepsy; 4m-mild, generalized hypotonia; no spasticity; no ataxia; MRI brain normal (infancy); no regression; no other neurological abnormalities; no facial dysmorphisms; no dental/oral abnormalities; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; hypermobility joints; mild constipation; no urogenital abnormalities; No; normal skin, normal hair, normal nails; no neoplasms" "" "" "" "" "" "" "" "neurodevelopmental delay" ## 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}}" "0000304480" "00303354" "1" "00006" "00006" "2020-06-10 17:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000304480" "SATB1" ## 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 = 29 "{{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}}" "0000324003" "0" "50" "15" "42115695" "42115695" "subst" "0.000658494" "01804" "MAPKBP1_000001" "g.42115695C>T" "" "" "" "MAPKBP1(NM_001128608.1):c.3667C>T (p.(Arg1223Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41823497C>T" "" "VUS" "" "0000324004" "0" "50" "15" "42116754" "42116754" "subst" "0.000119804" "01804" "MAPKBP1_000002" "g.42116754G>A" "" "" "" "MAPKBP1(NM_001128608.1):c.4304G>A (p.(Arg1435Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41824556G>A" "" "VUS" "" "0000554214" "0" "30" "15" "42106923" "42106923" "subst" "0.00309996" "01804" "MAPKBP1_000004" "g.42106923G>A" "" "" "" "MAPKBP1(NM_001128608.1):c.1174G>A (p.(Val392Ile)), MAPKBP1(NM_001128608.2):c.1174G>A (p.V392I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41814725G>A" "" "likely benign" "" "0000623218" "0" "50" "15" "42103101" "42103101" "subst" "8.12203E-5" "01943" "MAPKBP1_000005" "g.42103101A>G" "" "" "" "MAPKBP1(NM_001128608.1):c.227A>G (p.N76S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41810903A>G" "" "VUS" "" "0000680160" "0" "30" "15" "42106923" "42106923" "subst" "0.00309996" "02326" "MAPKBP1_000004" "g.42106923G>A" "" "" "" "MAPKBP1(NM_001128608.1):c.1174G>A (p.(Val392Ile)), MAPKBP1(NM_001128608.2):c.1174G>A (p.V392I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725066" "0" "30" "15" "42105938" "42105938" "subst" "4.11096E-6" "01943" "MAPKBP1_000006" "g.42105938C>T" "" "" "" "MAPKBP1(NM_001128608.1):c.957C>T (p.P319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725067" "0" "30" "15" "42108794" "42108794" "subst" "0.000552253" "02326" "MAPKBP1_000007" "g.42108794G>T" "" "" "" "MAPKBP1(NM_001128608.2):c.1549G>T (p.V517L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725068" "0" "30" "15" "42111846" "42111846" "subst" "0.00118083" "02326" "MAPKBP1_000008" "g.42111846C>T" "" "" "" "MAPKBP1(NM_001128608.2):c.2497C>T (p.R833W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725069" "0" "30" "15" "42117627" "42117627" "subst" "0.000194995" "02326" "JMJD7_000015" "g.42117627A>G" "" "" "" "MAPKBP1(NM_001128608.2):c.4538A>G (p.K1513R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763510" "0" "50" "15" "42115900" "42115900" "subst" "0" "00006" "MAPKBP1_000009" "g.42115900C>G" "" "{PMID:Kaplanis 2020:33057194}, {PMID:Den Hoed 2021:33513338}, {DOI:Den Hoed 2021:10.1016/j.ajhg.2021.01.007}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000806673" "0" "30" "15" "42110783" "42110783" "subst" "0.00232718" "02326" "MAPKBP1_000010" "g.42110783G>A" "" "" "" "MAPKBP1(NM_001128608.2):c.2174+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853999" "0" "10" "15" "42111100" "42111100" "subst" "0.00252659" "02326" "MAPKBP1_000011" "g.42111100C>T" "" "" "" "MAPKBP1(NM_001128608.2):c.2254C>T (p.R752W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854000" "0" "30" "15" "42113921" "42113921" "subst" "3.24886E-5" "02326" "MAPKBP1_000012" "g.42113921C>T" "" "" "" "MAPKBP1(NM_001128608.2):c.2876C>T (p.P959L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854001" "0" "30" "15" "42116737" "42116737" "subst" "0.000525734" "01943" "JMJD7_000017" "g.42116737C>T" "" "" "" "MAPKBP1(NM_001128608.1):c.4287C>T (p.S1429=), MAPKBP1(NM_001128608.2):c.4287C>T (p.S1429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863812" "0" "30" "15" "42116076" "42116076" "subst" "0.00155605" "02326" "JMJD7_000016" "g.42116076G>T" "" "" "" "MAPKBP1(NM_001128608.2):c.4048G>T (p.G1350C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892028" "0" "50" "15" "42109861" "42109861" "subst" "6.9049E-5" "01943" "MAPKBP1_000013" "g.42109861C>T" "" "" "" "MAPKBP1(NM_001128608.1):c.1850C>T (p.T617M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892029" "0" "30" "15" "42111776" "42111776" "subst" "0.00361139" "02326" "MAPKBP1_000014" "g.42111776T>G" "" "" "" "MAPKBP1(NM_001128608.2):c.2444-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892030" "0" "30" "15" "42113922" "42113922" "subst" "0.00118587" "02326" "MAPKBP1_000015" "g.42113922G>A" "" "" "" "MAPKBP1(NM_001128608.2):c.2877G>A (p.P959=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892031" "0" "30" "15" "42114324" "42114324" "subst" "0.000597242" "02326" "MAPKBP1_000016" "g.42114324G>T" "" "" "" "MAPKBP1(NM_001128608.2):c.3049+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892032" "0" "30" "15" "42115250" "42115250" "subst" "2.03542E-5" "02326" "MAPKBP1_000017" "g.42115250C>T" "" "" "" "MAPKBP1(NM_001128608.2):c.3446C>T (p.P1149L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892033" "0" "10" "15" "42116671" "42116671" "subst" "0.00253327" "02326" "JMJD7_000019" "g.42116671G>A" "" "" "" "MAPKBP1(NM_001128608.2):c.4232-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892034" "0" "30" "15" "42116737" "42116737" "subst" "0.000525734" "02326" "JMJD7_000017" "g.42116737C>T" "" "" "" "MAPKBP1(NM_001128608.1):c.4287C>T (p.S1429=), MAPKBP1(NM_001128608.2):c.4287C>T (p.S1429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930376" "0" "30" "15" "42108788" "42108788" "subst" "0.00280192" "02326" "MAPKBP1_000018" "g.42108788C>T" "" "" "" "MAPKBP1(NM_001128608.2):c.1543C>T (p.L515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930377" "0" "30" "15" "42109163" "42109163" "subst" "0.000163201" "02326" "MAPKBP1_000019" "g.42109163C>T" "" "" "" "MAPKBP1(NM_001128608.2):c.1659C>T (p.A553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950341" "0" "50" "15" "42105888" "42105888" "subst" "0.000195047" "02326" "MAPKBP1_000020" "g.42105888C>T" "" "" "" "MAPKBP1(NM_001128608.2):c.907C>T (p.R303C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950342" "0" "30" "15" "42111544" "42111544" "subst" "0.00217676" "02326" "MAPKBP1_000021" "g.42111544C>T" "" "" "" "MAPKBP1(NM_001128608.2):c.2410C>T (p.P804S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950343" "0" "50" "15" "42114452" "42114452" "subst" "0" "02326" "MAPKBP1_000022" "g.42114452G>C" "" "" "" "MAPKBP1(NM_001128608.2):c.3079G>C (p.D1027H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967756" "0" "30" "15" "42111543" "42111543" "subst" "0.00217684" "02326" "MAPKBP1_000023" "g.42111543G>T" "" "" "" "MAPKBP1(NM_001128608.2):c.2409G>T (p.L803=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001377" "0" "30" "15" "42103115" "42103115" "subst" "8.12203E-6" "01804" "MAPKBP1_000024" "g.42103115A>G" "" "" "" "MAPKBP1(NM_014994.2):c.241A>G (p.(Lys81Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 MAPKBP1 ## Count = 29 "{{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}}" "0000324003" "00011799" "50" "3649" "0" "3649" "0" "c.3649C>T" "r.(?)" "p.(Arg1217Trp)" "" "0000324004" "00011799" "50" "4286" "0" "4286" "0" "c.4286G>A" "r.(?)" "p.(Arg1429Gln)" "" "0000554214" "00011799" "30" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Val386Ile)" "" "0000623218" "00011799" "50" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Asn76Ser)" "" "0000680160" "00011799" "30" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Val386Ile)" "" "0000725066" "00011799" "30" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Pro313=)" "" "0000725067" "00011799" "30" "1531" "0" "1531" "0" "c.1531G>T" "r.(?)" "p.(Val511Leu)" "" "0000725068" "00011799" "30" "2479" "0" "2479" "0" "c.2479C>T" "r.(?)" "p.(Arg827Trp)" "" "0000725069" "00011799" "30" "4520" "0" "4520" "0" "c.4520A>G" "r.(?)" "p.(Lys1507Arg)" "" "0000763510" "00011799" "50" "3854" "0" "3854" "0" "c.3854C>G" "r.(?)" "p.(Pro1285Arg)" "" "0000806673" "00011799" "30" "2156" "3" "2156" "3" "c.2156+3G>A" "r.spl?" "p.?" "" "0000853999" "00011799" "10" "2236" "0" "2236" "0" "c.2236C>T" "r.(?)" "p.(Arg746Trp)" "" "0000854000" "00011799" "30" "2858" "0" "2858" "0" "c.2858C>T" "r.(?)" "p.(Pro953Leu)" "" "0000854001" "00011799" "30" "4269" "0" "4269" "0" "c.4269C>T" "r.(?)" "p.(Ser1423=)" "" "0000863812" "00011799" "30" "4030" "0" "4030" "0" "c.4030G>T" "r.(?)" "p.(Gly1344Cys)" "" "0000892028" "00011799" "50" "1832" "0" "1832" "0" "c.1832C>T" "r.(?)" "p.(Thr611Met)" "" "0000892029" "00011799" "30" "2426" "-17" "2426" "-17" "c.2426-17T>G" "r.(=)" "p.(=)" "" "0000892030" "00011799" "30" "2859" "0" "2859" "0" "c.2859G>A" "r.(?)" "p.(Pro953=)" "" "0000892031" "00011799" "30" "3031" "16" "3031" "16" "c.3031+16G>T" "r.(=)" "p.(=)" "" "0000892032" "00011799" "30" "3428" "0" "3428" "0" "c.3428C>T" "r.(?)" "p.(Pro1143Leu)" "" "0000892033" "00011799" "10" "4214" "-11" "4214" "-11" "c.4214-11G>A" "r.(=)" "p.(=)" "" "0000892034" "00011799" "30" "4269" "0" "4269" "0" "c.4269C>T" "r.(?)" "p.(Ser1423=)" "" "0000930376" "00011799" "30" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(=)" "" "0000930377" "00011799" "30" "1641" "0" "1641" "0" "c.1641C>T" "r.(?)" "p.(=)" "" "0000950341" "00011799" "50" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Arg297Cys)" "" "0000950342" "00011799" "30" "2392" "0" "2392" "0" "c.2392C>T" "r.(?)" "p.(Pro798Ser)" "" "0000950343" "00011799" "50" "3061" "0" "3061" "0" "c.3061G>C" "r.(?)" "p.(Asp1021His)" "" "0000967756" "00011799" "30" "2391" "0" "2391" "0" "c.2391G>T" "r.(?)" "p.(=)" "" "0001001377" "00011799" "30" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000304480" "0000763510"