### LOVD-version 3000-230 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DYNLT3)
# 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}}" "{{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}}"
"DYNLT3" "dynein, light chain, Tctex-type 3" "X" "p21" "unknown" "NG_016797.1" "UD_132118644857" "" "https://www.LOVD.nl/DYNLT3" "" "1" "11694" "6990" "300302" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DYNLT3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 14:29:48" "00006" "2017-12-06 21:05:07" "00006" "2020-01-05 12:03:00"
## 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}}"
"00000995" "DYNLT3" "dynein, light chain, Tctex-type 3" "001" "NM_006520.2" "" "NP_006511.1" "" "" "" "-126" "2090" "351" "37698089" "37706889" "00000" "2012-09-13 13:05:06" "" ""
## 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}}"
"00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-24 17:14:32"
"05349" "CGD" "granulomatous disease, chronic (CGD)" "" "" "" "" "" "00006" "2017-11-24 16:14:58" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}"
"00000208" "" "" "" "1" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00000209" "" "" "" "1" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00143802" "" "" "" "1" "00006" "{PMID:Arai 2012:22383943}" "carrier mother" "M" "" "Japan" "" "0" "" "" "" "22383943-Pat2"
"00143803" "" "" "" "1" "00006" "{PMID:Arai 2012:22383943}" "carrier mother" "M" "" "Japan" "" "0" "" "" "" "22383943-Pat3"
"00143804" "" "" "" "1" "00006" "{PMID:Arai 2012:22383943}" "mother not a carrier" "M" "" "Japan" "" "0" "" "" "" "22383943-Pat4"
"00143805" "" "" "" "1" "00006" "{PMID:Arai 2012:22383943}" "carrier mother" "F" "" "Japan" "" "0" "" "" "" "22383943-Pat5"
"00172658" "" "" "" "22" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00143802" "05349"
"00143803" "05349"
"00143804" "05349"
"00143805" "05349"
"00172658" "00187"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 05349
## Count = 7
"{{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}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" ""
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" ""
"0000116580" "05349" "00143802" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" ""
"0000116581" "05349" "00143803" "00006" "Familial, X-linked" "" "reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK" "" "" "" "" "" "" "" "" "" ""
"0000116582" "05349" "00143804" "00006" "Familial, X-linked recessive" "" "reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK" "" "" "" "" "" "" "" "" "" ""
"0000116583" "05349" "00143805" "00006" "Unknown" "" "history of\r\nincreased susceptibility to infection at the clinical diagnosis CGD; 11y-increased susceptibility to infection, marked\r\nreduction in ROS productivity (0.05)" "" "" "" "" "" "" "" "" "" ""
"0000137522" "00187" "00172658" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX"
## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000144661" "00143802" "1" "00006" "00006" "2017-12-06 19:49:57" "" "" "arrayCGH;SEQ" "DNA" "" ""
"0000144662" "00143803" "1" "00006" "00006" "2017-12-06 21:07:36" "" "" "arrayCGH" "DNA" "" ""
"0000144663" "00143804" "1" "00006" "00006" "2017-12-06 21:11:21" "" "" "arrayCGH" "DNA" "" ""
"0000144664" "00143805" "1" "00006" "00006" "2017-12-06 21:17:02" "" "" "arrayCGH" "DNA" "" ""
"0000173541" "00172658" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{geneid}}"
"0000144661" "CYBB"
"0000144661" "DYNLT3"
"0000144662" "CYBB"
"0000144663" "CYBB"
"0000144664" "CYBB"
"0000173541" "PGRMC1"
## 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 = 9
"{{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}}"
"0000006590" "20" "50" "X" "37700014" "37700014" "subst" "0" "00037" "DYNLT3_000001" "g.37700014C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.37840761C>A" ""
"0000014555" "20" "50" "X" "37700014" "37700014" "subst" "0" "00037" "DYNLT3_000001" "g.37700014C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.37840761C>A" ""
"0000235487" "21" "90" "X" "0" "0" "" "0" "00006" "CYBB_000006" "g.37642454_(37731114_37731173)del;(37758263_37758322)_37856175dup" "" "{PMID:Arai 2012:22383943}" "" "" "" "Germline" "" "" "0" "" "" "" ""
"0000235488" "21" "90" "X" "37372075" "37965827" "del" "0" "00006" "CYBB_000007" "g.(37372045_37372104)_(37965797_37965856)del" "" "{PMID:Arai 2012:22383943}" "" "" "593.8 kb deletion" "Germline" "" "" "0" "" "" "" ""
"0000235489" "0" "90" "X" "35839404" "37787280" "del" "0" "00006" "CYBB_000007" "g.(35839374_35839433)_(37787250_37787309)del" "" "{PMID:Arai 2012:22383943}" "" "" "1944.5 kb deletion" "De novo" "" "" "0" "" "" "" ""
"0000235490" "21" "90" "X" "32407760" "38122559" "del" "0" "00006" "DMD_042217" "g.(32407730_32407789)_(38122529_38122588)del" "" "{PMID:Arai 2012:22383943}" "" "" "5711.4 kb deletion" "Germline" "" "" "0" "" "46,X,del(X)(p21.1p21.2" "" ""
"0000393400" "1" "30" "X" "37701048" "37701048" "subst" "0.333018" "00124" "DYNLT3_000002" "g.37701048G>A" "22/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A61A" "recurrent, found 22 times" "Germline" "" "" "0" "" "" "" ""
"0000575801" "0" "10" "X" "37700333" "37700333" "subst" "0" "02333" "DYNLT3_000003" "g.37700333G>A" "" "" "" "DYNLT3(NM_006520.2):c.222C>T (p.S74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000575802" "0" "30" "X" "37706750" "37706750" "subst" "0" "02333" "DYNLT3_000004" "g.37706750T>C" "" "" "" "DYNLT3(NM_006520.2):c.14A>G (p.(His5Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
## 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 DYNLT3
## Count = 9
"{{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/Classification}}"
"0000006590" "00000995" "50" "275" "-110" "275" "-110" "c.275-110G>T" "" "p.(=)" "" ""
"0000014555" "00000995" "50" "275" "-110" "275" "-110" "c.275-110G>T" "" "p.(=)" "" ""
"0000235487" "00000995" "90" "-1" "0" "352" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_5_" ""
"0000235488" "00000995" "90" "-1" "0" "352" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_5_" ""
"0000235489" "00000995" "90" "-1" "0" "352" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_5_" ""
"0000235490" "00000995" "90" "-1" "0" "352" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_5_" "VUS"
"0000393400" "00000995" "30" "183" "0" "183" "0" "c.183C>T" "r.(=)" "p.(=)" "" ""
"0000575801" "00000995" "10" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(=)" "" "benign"
"0000575802" "00000995" "30" "14" "0" "14" "0" "c.14A>G" "r.(?)" "p.(His5Arg)" "" "likely benign"
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000006590"
"0000000210" "0000014555"
"0000144661" "0000235487"
"0000144662" "0000235488"
"0000144663" "0000235489"
"0000144664" "0000235490"
"0000173541" "0000393400"