### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DPM1) # 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}}" "DPM1" "dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit" "20" "q13.1" "unknown" "NG_008923.1" "UD_132118271919" "" "http://www.LOVD.nl/DPM1" "" "1" "3005" "8813" "603503" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/DPM1_codingDNA.html" "1" "" "\"EuroglycanetCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site." "-1" "" "-1" "00002" "2012-09-05 00:00:00" "00006" "2015-03-20 18:51:28" "00000" "2025-05-05 21:14:00" ## 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}}" "00000062" "DPM1" "dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit" "001" "NM_003859.1" "" "NP_003850.1" "" "" "" "1" "1047" "783" "49575060" "49551405" "00002" "2012-05-11 13:11:58" "" "" ## 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" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02793" "CDG1E" "glycosylation, congenital disorder of, type Ie (CDG-1E)" "AR" "608799" "" "" "" "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}}" "DPM1" "00139" "DPM1" "02793" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00181164" "" "" "" "1" "" "02552" "" "" "F" "" "" "" "0" "" "" "" "59248" "00292949" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00431784" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "00y01m" "" "" "" "Europe" "SIDS006" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00181164" "00344" "00292949" "00198" "00431784" "02087" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 02087, 02793 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{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}}" "0000143373" "00344" "00181164" "02552" "Isolated (sporadic)" "" "HP:0008936\r\nHP:0001285\r\nHP:0000639\r\nHP:0000311\r\nHP:0000160\r\nHP:0000653\r\nHP:0000286\r\nHP:0003196\r\nHP:0000463\r\nHP:0000294\r\nHP:0006610" "00y03m" "" "" "" "" "" "" "" "" "" "" "0000322353" "02087" "00431784" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000182122" "00181164" "1" "02552" "02552" "2018-10-02 14:24:16" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000294117" "00292949" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000433222" "00431784" "1" "01602" "01602" "2023-02-16 14:13:14" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{geneid}}" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" ## 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 = 25 "{{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}}" "0000000896" "3" "50" "20" "49552904" "49552904" "subst" "0" "00002" "DPM1_000001" "g.49552904A>G" "" "{PMID:Almomani 2011:21102627} {dbSNP:2294902}" "" "" "" "Germline" "" "" "" "" "" "g.50936367A>G" "" "VUS" "" "0000275497" "0" "10" "20" "49551780" "49551780" "subst" "0" "01943" "DPM1_000003" "g.49551780T>A" "" "" "" "DPM1(NM_003859.1):c.679-7A>T (p.(=)), DPM1(NM_003859.2):c.679-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50935243T>A" "" "benign" "" "0000291924" "0" "90" "20" "49576148" "49576148" "subst" "0" "01943" "MOCS3_000001" "g.49576148G>A" "" "" "" "MOCS3(NM_014484.4):c.769G>A (p.A257T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50959611G>A" "" "pathogenic" "" "0000406008" "11" "90" "20" "49565187" "49565187" "subst" "2.03042E-5" "02552" "DPM1_000004" "g.49565187G>C" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs121908583" "0" "" "" "g.50948650G>C" "" "pathogenic" "" "0000569956" "0" "10" "20" "49551779" "49551780" "ins" "0" "01943" "DPM1_000006" "g.49551779_49551780insA" "" "" "" "DPM1(NM_003859.1):c.679-7_679-6insT (p.(=)), DPM1(NM_003859.2):c.679-7_679-6insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50935242_50935243insA" "" "benign" "" "0000569957" "0" "30" "20" "49551780" "49551780" "subst" "0" "01804" "DPM1_000003" "g.49551780T>A" "" "" "" "DPM1(NM_003859.1):c.679-7A>T (p.(=)), DPM1(NM_003859.2):c.679-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50935243T>A" "" "likely benign" "" "0000569958" "0" "30" "20" "49551791" "49551792" "dup" "0" "01804" "DPM1_000007" "g.49551791_49551792dup" "" "" "" "DPM1(NM_003859.3):c.679-9_679-8dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50935254_50935255dup" "" "likely benign" "" "0000569959" "0" "30" "20" "49551792" "49551792" "dup" "0" "01804" "DPM1_000008" "g.49551792dup" "" "" "" "DPM1(NM_001317034.1):c.784-8dupT, DPM1(NM_003859.1):c.679-8dup (p.(=)), DPM1(NM_003859.2):c.679-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50935255dup" "" "likely benign" "" "0000569960" "0" "50" "20" "49557440" "49557440" "subst" "0" "02327" "DPM1_000009" "g.49557440C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50940903C>A" "" "VUS" "" "0000569961" "0" "70" "20" "49571802" "49571802" "del" "0" "01804" "DPM1_000010" "g.49571802del" "" "" "" "DPM1(NM_003859.1):c.182delT (p.(Ile61LysfsTer3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50955265del" "" "likely pathogenic" "" "0000569963" "0" "30" "20" "49576362" "49576362" "subst" "2.03034E-5" "01804" "DPM1_000012" "g.49576362A>G" "" "" "" "MOCS3(NM_014484.4):c.983A>G (p.(Gln328Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50959825A>G" "" "likely benign" "" "0000618206" "0" "30" "20" "49551779" "49551780" "ins" "0" "01804" "DPM1_000006" "g.49551779_49551780insA" "" "" "" "DPM1(NM_003859.1):c.679-7_679-6insT (p.(=)), DPM1(NM_003859.2):c.679-7_679-6insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50935242_50935243insA" "" "likely benign" "" "0000618207" "0" "50" "20" "49552688" "49552688" "subst" "0" "01943" "DPM1_000014" "g.49552688G>A" "" "" "" "DPM1(NM_001317034.1):c.780C>T (p.G260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50936151G>A" "" "VUS" "" "0000618208" "0" "30" "20" "49552733" "49552733" "subst" "0" "01804" "DPM1_000015" "g.49552733C>A" "" "" "" "DPM1(NM_003859.1):c.630G>T (p.(Gln210His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50936196C>A" "" "likely benign" "" "0000650806" "1" "90" "20" "49565187" "49565187" "subst" "2.03042E-5" "03575" "DPM1_000004" "g.49565187G>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908583}" "Germline" "" "rs121908583" "0" "" "" "g.50948650G>C" "" "pathogenic" "" "0000681641" "0" "10" "20" "49551792" "49551792" "dup" "0" "01943" "DPM1_000008" "g.49551792dup" "" "" "" "DPM1(NM_001317034.1):c.784-8dupT, DPM1(NM_003859.1):c.679-8dup (p.(=)), DPM1(NM_003859.2):c.679-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681642" "0" "50" "20" "49576326" "49576326" "subst" "0.000714698" "01943" "MOCS3_000002" "g.49576326G>A" "" "" "" "MOCS3(NM_014484.4):c.947G>A (p.C316Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692996" "0" "30" "20" "49562261" "49562261" "subst" "0.0004151" "02326" "DPM1_000016" "g.49562261A>G" "" "" "" "DPM1(NM_001317034.1):c.398+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692997" "0" "30" "20" "49576174" "49576174" "subst" "0" "01943" "DPM1_000017" "g.49576174G>C" "" "" "" "MOCS3(NM_014484.4):c.795G>C (p.A265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727730" "0" "30" "20" "49575033" "49575033" "subst" "4.06355E-6" "01943" "DPM1_000018" "g.49575033G>T" "" "" "" "DPM1(NM_001317034.1):c.28C>A (p.P10T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809275" "0" "30" "20" "49576685" "49576685" "subst" "0.000471192" "01943" "DPM1_000019" "g.49576685C>A" "" "" "" "MOCS3(NM_014484.4):c.1306C>A (p.P436T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855867" "0" "10" "20" "49551792" "49551792" "dup" "0" "02326" "DPM1_000008" "g.49551792dup" "" "" "" "DPM1(NM_001317034.1):c.784-8dupT, DPM1(NM_003859.1):c.679-8dup (p.(=)), DPM1(NM_003859.2):c.679-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866529" "0" "30" "20" "49575021" "49575021" "subst" "0.00161315" "01804" "DPM1_000020" "g.49575021G>A" "" "" "" "DPM1(NM_001317034.1):c.40C>T (p.(Arg14Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918858" "0" "90" "20" "49565187" "49565187" "subst" "2.03042E-5" "01602" "DPM1_000004" "g.49565187G>C" "" "" "" "" "" "Unknown" "" "rs121908583" "" "" "" "" "" "pathogenic" "ACMG" "0001043412" "0" "50" "20" "49558653" "49558653" "subst" "4.06279E-6" "01804" "DPM1_000021" "g.49558653C>T" "" "" "" "DPM1(NM_003859.3):c.409G>A (p.(Glu137Lys))" "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 DPM1 ## Count = 25 "{{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}}" "0000000896" "00000062" "50" "564" "-105" "564" "-105" "c.564-105T>C" "r.(=)" "p.(=)" "" "0000275497" "00000062" "10" "679" "-7" "679" "-7" "c.679-7A>T" "r.(=)" "p.(=)" "" "0000291924" "00000062" "90" "-1088" "0" "-1088" "0" "c.-1088C>T" "r.(?)" "p.(=)" "" "0000406008" "00000062" "90" "274" "0" "274" "0" "c.274C>G" "r.(?)" "p.(Arg92Gly)" "" "0000569956" "00000062" "10" "679" "-7" "679" "-6" "c.679-7_679-6insT" "r.(=)" "p.(=)" "" "0000569957" "00000062" "30" "679" "-7" "679" "-7" "c.679-7A>T" "r.(=)" "p.(=)" "" "0000569958" "00000062" "30" "679" "-9" "679" "-8" "c.679-9_679-8dup" "r.(=)" "p.(=)" "" "0000569959" "00000062" "30" "679" "-8" "679" "-8" "c.679-8dup" "r.(=)" "p.(=)" "" "0000569960" "00000062" "50" "525" "0" "525" "0" "c.525G>T" "r.(?)" "p.(Leu175Phe)" "" "0000569961" "00000062" "70" "182" "0" "182" "0" "c.182del" "r.(?)" "p.(Ile61LysfsTer3)" "" "0000569963" "00000062" "30" "-1302" "0" "-1302" "0" "c.-1302T>C" "r.(?)" "p.(=)" "" "0000618206" "00000062" "30" "679" "-7" "679" "-6" "c.679-7_679-6insT" "r.(=)" "p.(=)" "" "0000618207" "00000062" "50" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Gly225=)" "" "0000618208" "00000062" "30" "630" "0" "630" "0" "c.630G>T" "r.(?)" "p.(Gln210His)" "" "0000650806" "00000062" "90" "274" "0" "274" "0" "c.274C>G" "r.(?)" "p.(Arg92Gly)" "" "0000681641" "00000062" "10" "679" "-8" "679" "-8" "c.679-8dup" "r.(=)" "p.(=)" "" "0000681642" "00000062" "50" "-1266" "0" "-1266" "0" "c.-1266C>T" "r.(?)" "p.(=)" "" "0000692996" "00000062" "30" "398" "13" "398" "13" "c.398+13T>C" "r.(=)" "p.(=)" "" "0000692997" "00000062" "30" "-1114" "0" "-1114" "0" "c.-1114C>G" "r.(?)" "p.(=)" "" "0000727730" "00000062" "30" "28" "0" "28" "0" "c.28C>A" "r.(?)" "p.(Pro10Thr)" "" "0000809275" "00000062" "30" "-1625" "0" "-1625" "0" "c.-1625G>T" "r.(?)" "p.(=)" "" "0000855867" "00000062" "10" "679" "-8" "679" "-8" "c.679-8dup" "r.(=)" "p.(=)" "" "0000866529" "00000062" "30" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Arg14Trp)" "" "0000918858" "00000062" "90" "274" "0" "274" "0" "c.274C>G" "r.(?)" "p.(Arg92Gly)" "" "0001043412" "00000062" "50" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Glu137Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000000029" "0000000896" "0000182122" "0000406008" "0000294117" "0000650806" "0000433222" "0000918858"