### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMARCAD1) # 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}}" "SMARCAD1" "SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1" "4" "q22-q23" "unknown" "NG_031945.1" "UD_133033846060" "" "http://www.LOVD.nl/SMARCAD1" "" "1" "18398" "56916" "612761" "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/SMARCAD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-27 06:01:47" "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}}" "00024100" "SMARCAD1" "transcript variant 2" "001" "NM_001128430.1" "" "NP_001121902.1" "" "" "" "-177" "4845" "3087" "95128759" "95212443" "00006" "2016-01-27 06:00:14" "" "" ## 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}}" "01333" "ADERM" "adermatoglyphia (ADERM)" "AD" "136000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06608" "HRZ" "Huriez syndrome" "AD" "181600" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SMARCAD1" "01333" "SMARCAD1" "06608" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01333, 06608 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 7 "{{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}}" "0000248541" "0" "10" "4" "95186055" "95186055" "subst" "0.388518" "02325" "SMARCAD1_000003" "g.95186055A>G" "" "" "" "SMARCAD1(NM_001128429.3):c.1479A>G (p.Q493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94264904A>G" "" "benign" "" "0000298394" "0" "10" "4" "95197520" "95197520" "subst" "0.598171" "02325" "SMARCAD1_000004" "g.95197520C>T" "" "" "" "SMARCAD1(NM_001128429.3):c.1839C>T (p.D613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94276369C>T" "" "benign" "" "0000298395" "0" "10" "4" "95170839" "95170839" "subst" "0.466116" "02325" "SMARCAD1_000001" "g.95170839G>A" "" "" "" "SMARCAD1(NM_001128429.3):c.740G>A (p.S247N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94249688G>A" "" "benign" "" "0000298396" "0" "10" "4" "95173779" "95173779" "subst" "0.637065" "02325" "SMARCAD1_000002" "g.95173779T>C" "" "" "" "SMARCAD1(NM_001128429.3):c.902T>C (p.V301A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94252628T>C" "" "benign" "" "0000720045" "0" "50" "4" "95173791" "95173791" "subst" "0" "02325" "SMARCAD1_000006" "g.95173791A>C" "" "" "" "SMARCAD1(NM_001128429.3):c.914A>C (p.E305A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720046" "0" "30" "4" "95201895" "95201895" "subst" "4.06398E-6" "01943" "SMARCAD1_000007" "g.95201895A>C" "" "" "" "SMARCAD1(NM_001128429.2):c.2577A>C (p.R859=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994504" "0" "50" "4" "95155126" "95155128" "del" "0" "01804" "SMARCAD1_000008" "g.95155126_95155128del" "" "" "" "SMARCAD1(NM_001128430.1):c.390_392delAGA (p.(Glu131del))" "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 SMARCAD1 ## Count = 7 "{{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}}" "0000248541" "00024100" "10" "1479" "0" "1479" "0" "c.1479A>G" "r.(?)" "p.(Gln493=)" "" "0000298394" "00024100" "10" "1839" "0" "1839" "0" "c.1839C>T" "r.(?)" "p.(Asp613=)" "" "0000298395" "00024100" "10" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Ser247Asn)" "" "0000298396" "00024100" "10" "902" "0" "902" "0" "c.902T>C" "r.(?)" "p.(Val301Ala)" "" "0000720045" "00024100" "50" "914" "0" "914" "0" "c.914A>C" "r.(?)" "p.(Glu305Ala)" "" "0000720046" "00024100" "30" "2577" "0" "2577" "0" "c.2577A>C" "r.(?)" "p.(Arg859=)" "" "0000994504" "00024100" "50" "390" "0" "392" "0" "c.390_392del" "r.(?)" "p.(Glu131del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0