### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DHX16) # 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}}" "DHX16" "DEAH (Asp-Glu-Ala-His) box polypeptide 16" "6" "p21.3" "unknown" "NC_000006.11" "UD_136086579522" "" "https://www.LOVD.nl/DHX16" "" "1" "2739" "8449" "603405" "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/DHX16_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-05-16 08:10:52" "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}}" "00006404" "DHX16" "transcript variant 1" "002" "NM_003587.4" "" "NP_003578.2" "" "" "" "-212" "3249" "3126" "30640830" "30620896" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "06724" "NMOAS" "Neuromuscular disease and ocular or auditory anomalies with or without seizures" "" "618733" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DHX16" "06724" ## 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}}" "00435119" "" "" "" "1" "" "04505" "" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00435119" "06724" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 06724 ## Count = 0 ## 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}}" "0000436591" "00435119" "1" "04505" "04505" "2023-05-15 19:17:23" "00006" "2023-05-16 08:10:02" "PCR;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000436591" "DHX16" ## 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 = 21 "{{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}}" "0000263154" "0" "50" "6" "30609955" "30609955" "subst" "8.12288E-6" "01943" "ATAT1_000001" "g.30609955C>G" "" "" "" "ATAT1(NM_024909.3):c.655C>G (p.P219A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30642178C>G" "" "VUS" "" "0000528202" "0" "50" "6" "30617540" "30617540" "subst" "8.1275E-6" "01804" "ATAT1_000003" "g.30617540A>G" "" "" "" "C6orf136(NM_001109938.2):c.278A>G (p.(Glu93Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30649763A>G" "" "VUS" "" "0000839787" "0" "70" "6" "30628006" "30628006" "subst" "0" "03779" "DHX16_000001" "g.30628006C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000887138" "0" "30" "6" "30632600" "30632600" "subst" "0" "02327" "C6orf136_000001" "g.30632600A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927626" "0" "90" "6" "30630756" "30630756" "subst" "0" "04505" "DHX16_000002" "g.30630756G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.30662979G>A" "" "pathogenic (dominant)" "" "0000977142" "0" "50" "6" "30627559" "30627559" "subst" "0" "01804" "C6orf136_000002" "g.30627559T>C" "" "" "" "DHX16(NM_003587.5):c.1808A>G (p.(His603Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977143" "0" "50" "6" "30630440" "30630440" "subst" "0" "01804" "C6orf136_000003" "g.30630440C>A" "" "" "" "DHX16(NM_003587.5):c.1508G>T (p.(Arg503Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977144" "0" "30" "6" "30630522" "30630522" "subst" "0.000369718" "01804" "C6orf136_000004" "g.30630522G>A" "" "" "" "DHX16(NM_003587.5):c.1429-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977145" "0" "50" "6" "30633377" "30633377" "del" "0" "01804" "C6orf136_000005" "g.30633377del" "" "" "" "DHX16(NM_003587.5):c.801del (p.(Gln268ArgfsTer47))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977146" "0" "30" "6" "30640404" "30640404" "subst" "0.000628026" "01804" "C6orf136_000006" "g.30640404G>C" "" "" "" "DHX16(NM_003587.5):c.207+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995630" "0" "50" "6" "30621036" "30621036" "subst" "8.28768E-6" "01804" "C6orf136_000007" "g.30621036G>A" "" "" "" "DHX16(NM_003587.4):c.3109C>T (p.(Arg1037*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995631" "0" "50" "6" "30622963" "30622963" "subst" "2.84336E-5" "01804" "C6orf136_000008" "g.30622963G>A" "" "" "" "DHX16(NM_003587.4):c.2812C>T (p.(Arg938Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995632" "0" "30" "6" "30627275" "30627275" "subst" "9.17095E-6" "01804" "C6orf136_000009" "g.30627275G>C" "" "" "" "DHX16(NM_003587.4):c.1981C>G (p.(Gln661Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995633" "0" "30" "6" "30627973" "30627973" "subst" "0" "01804" "C6orf136_000010" "g.30627973T>C" "" "" "" "DHX16(NM_003587.4):c.1591A>G (p.(Ile531Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995634" "0" "50" "6" "30630791" "30630791" "subst" "0" "01804" "C6orf136_000011" "g.30630791G>A" "" "" "" "DHX16(NM_003587.4):c.1325C>T (p.(Thr442Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995635" "0" "30" "6" "30632643" "30632643" "subst" "4.14144E-5" "01804" "C6orf136_000012" "g.30632643G>C" "" "" "" "DHX16(NM_003587.4):c.1252C>G (p.(Leu418Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995636" "0" "30" "6" "30632757" "30632757" "subst" "8.19054E-6" "01804" "C6orf136_000013" "g.30632757G>A" "" "" "" "DHX16(NM_003587.4):c.1138C>T (p.(Pro380Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995637" "0" "50" "6" "30632990" "30632990" "subst" "0" "01804" "C6orf136_000014" "g.30632990C>T" "" "" "" "DHX16(NM_003587.4):c.983G>A (p.(Arg328His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035660" "0" "50" "6" "30622490" "30622490" "subst" "8.35729E-6" "01804" "C6orf136_000015" "g.30622490A>G" "" "" "" "DHX16(NM_003587.5):c.2990T>C (p.(Met997Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035661" "0" "50" "6" "30622536" "30622536" "subst" "8.30261E-6" "01804" "C6orf136_000016" "g.30622536G>A" "" "" "" "DHX16(NM_003587.5):c.2944C>T (p.(Arg982Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035662" "0" "50" "6" "30627249" "30627249" "subst" "0" "01804" "C6orf136_000017" "g.30627249C>A" "" "" "" "DHX16(NM_003587.5):c.2007G>T (p.(Lys669Asn))" "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 DHX16 ## Count = 21 "{{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}}" "0000263154" "00006404" "50" "14190" "0" "14190" "0" "c.*11064G>C" "r.(=)" "p.(=)" "" "0000528202" "00006404" "50" "6605" "0" "6605" "0" "c.*3479T>C" "r.(=)" "p.(=)" "" "0000839787" "00006404" "70" "1558" "0" "1558" "0" "c.1558G>A" "r.(?)" "p.(Asp520Asn)" "" "0000887138" "00006404" "30" "1295" "0" "1295" "0" "c.1295T>A" "r.(?)" "p.(Ile432Asn)" "" "0000927626" "00006404" "90" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Arg454Trp)" "" "0000977142" "00006404" "50" "1808" "0" "1808" "0" "c.1808A>G" "r.(?)" "p.(His603Arg)" "" "0000977143" "00006404" "50" "1508" "0" "1508" "0" "c.1508G>T" "r.(?)" "p.(Arg503Leu)" "" "0000977144" "00006404" "30" "1429" "-3" "1429" "-3" "c.1429-3C>T" "r.spl?" "p.?" "" "0000977145" "00006404" "50" "801" "0" "801" "0" "c.801del" "r.(?)" "p.(Gln268Argfs*47)" "" "0000977146" "00006404" "30" "207" "8" "207" "8" "c.207+8C>G" "r.(=)" "p.(=)" "" "0000995630" "00006404" "50" "3109" "0" "3109" "0" "c.3109C>T" "r.(?)" "p.(Arg1037*)" "" "0000995631" "00006404" "50" "2812" "0" "2812" "0" "c.2812C>T" "r.(?)" "p.(Arg938Cys)" "" "0000995632" "00006404" "30" "1981" "0" "1981" "0" "c.1981C>G" "r.(?)" "p.(Gln661Glu)" "" "0000995633" "00006404" "30" "1591" "0" "1591" "0" "c.1591A>G" "r.(?)" "p.(Ile531Val)" "" "0000995634" "00006404" "50" "1325" "0" "1325" "0" "c.1325C>T" "r.(?)" "p.(Thr442Ile)" "" "0000995635" "00006404" "30" "1252" "0" "1252" "0" "c.1252C>G" "r.(?)" "p.(Leu418Val)" "" "0000995636" "00006404" "30" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Pro380Ser)" "" "0000995637" "00006404" "50" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Arg328His)" "" "0001035660" "00006404" "50" "2990" "0" "2990" "0" "c.2990T>C" "r.(?)" "p.(Met997Thr)" "" "0001035661" "00006404" "50" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Arg982Cys)" "" "0001035662" "00006404" "50" "2007" "0" "2007" "0" "c.2007G>T" "r.(?)" "p.(Lys669Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000436591" "0000927626"