### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCA5) # 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}}" "ABCA5" "ATP-binding cassette, sub-family A (ABC1), member 5" "17" "q24.3" "unknown" "NC_000017.10" "UD_132378654355" "" "https://www.LOVD.nl/ABCA5" "" "1" "35" "23461" "612503" "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/ABCA5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-01 15:06:19" "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}}" "00025867" "ABCA5" "transcript variant 2" "001" "NM_172232.2" "" "NP_758424.1" "" "" "" "-146" "8031" "4929" "67323323" "67240576" "00006" "2023-11-01 15:05:35" "" "" ## 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}}" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "06325" "HTC3" "?Hypertrichosis, congenital generalized, with gingival hyperplasia" "AR" "135400" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07038" "HTC" "hypertrichosis" "" "" "" "" "" "00006" "2023-11-01 15:17:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ABCA5" "06325" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00303069" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat111" "00440336" "" "" "" "1" "" "00006" "{PMID:DeStefano 2014:24831815}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "Yemen" "" "0" "" "" "" "FamPatII1" "00440337" "" "" "" "4" "" "00006" "{PMID:Raza 2022:35150007}" "5-generation family, 4 affected (4M), unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatV2" "00440338" "" "" "00440337" "1" "" "00006" "{PMID:Raza 2022:35150007}" "relative" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatV5" "00440339" "" "" "00440337" "1" "" "00006" "{PMID:Raza 2022:35150007}" "relative" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatV6" "00440340" "" "" "00440337" "1" "" "00006" "{PMID:Raza 2022:35150007}" "relative" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatV8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00303069" "05521" "00440336" "07038" "00440337" "07038" "00440338" "07038" "00440339" "07038" "00440340" "07038" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05521, 06325, 07038 ## Count = 6 "{{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}}" "0000230152" "05521" "00303069" "00006" "Familial, autosomal recessive" "" "Unclassified epilepsy; age onset unknown" "" "" "" "" "" "" "" "seizures" "0000330233" "07038" "00440336" "00006" "Familial, autosomal recessive" "" "congenital generalized hypertrichosis terminalis, gingival hyperplasia, epilepsy; excessive hair growth face, forehead, cheeks, upper cutaneous lip, arms, upper and lower back and legs" "" "" "" "" "" "" "HCT3" "hypertrichosis" "0000330234" "07038" "00440337" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., congenital hypertrichosis, excessive hair on arms, legs, scalp, face and back; gingival hyperplasia" "" "" "" "" "" "" "HTC3" "hypertrichosis" "0000330235" "07038" "00440338" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., 17y-deceased contracted chickenpox; congenital hypertrichosis entire body, gingival hyperplasia, epilepsy; EEG to diagnose epilepsy, following several fits" "" "" "" "" "" "" "HTC3" "hypertrichosis" "0000330236" "07038" "00440339" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., hypertrichosis, gingival hyperplasia, crowded teeth" "" "" "" "" "" "" "HTC3" "hypertrichosis" "0000330237" "07038" "00440340" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., congenital excessive hair growth head, arms, legs and back, gingival hyperplasia; mild congenital generalized hypertrichosis terminalissign" "" "" "" "" "" "" "HTC3" "hypertrichosis" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304194" "00303069" "1" "00006" "00006" "2020-06-05 14:49:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000441821" "00440336" "1" "00006" "00006" "2023-11-01 15:27:18" "00006" "2023-11-01 15:38:25" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "trio WES" "0000441822" "00440337" "1" "00006" "00006" "2023-11-01 15:46:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441823" "00440338" "1" "00006" "00006" "2023-11-01 15:51:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441824" "00440339" "1" "00006" "00006" "2023-11-01 15:52:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441825" "00440340" "1" "00006" "00006" "2023-11-01 15:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000304194" "ABCA5" "0000304194" "DGKZ" "0000441821" "ABCA5" ## 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 = 18 "{{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}}" "0000562870" "0" "50" "17" "67264081" "67264081" "dup" "0" "01804" "ABCA5_000004" "g.67264081dup" "" "" "" "ABCA5(NM_018672.3):c.3144+4dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69267940dup" "" "VUS" "" "0000667624" "3" "50" "17" "67249934" "67249934" "subst" "0" "00006" "ABCA5_000006" "g.67249934C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.69253793C>G" "" "VUS" "ACMG" "0000680993" "0" "50" "17" "67161107" "67161107" "subst" "0.00193871" "01804" "ABCA5_000007" "g.67161107G>C" "" "" "" "ABCA10(NM_080282.3):c.3280C>G (p.(Gln1094Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680994" "0" "50" "17" "67286164" "67286164" "subst" "8.72707E-6" "01943" "ABCA5_000008" "g.67286164A>G" "" "" "" "ABCA5(NM_018672.4):c.1621T>C (p.Y541H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692450" "0" "30" "17" "67215774" "67215774" "subst" "5.33272E-5" "01943" "ABCA5_000009" "g.67215774T>A" "" "" "" "ABCA10(NM_080282.3):c.442A>T (p.I148L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726638" "0" "30" "17" "67257889" "67257889" "subst" "8.00338E-5" "01943" "ABCA5_000010" "g.67257889C>T" "" "" "" "ABCA5(NM_018672.4):c.3316G>A (p.V1106I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000939754" "3" "90" "17" "67249934" "67249934" "subst" "0" "00006" "ABCA5_000006" "g.67249934C>G" "" "{PMID:DeStefano 2014:24831815}" "" "" "transcript levels significantly reduced" "Germline" "" "" "0" "" "" "g.69253793C>G" "" "pathogenic (recessive)" "" "0000939757" "3" "90" "17" "67299000" "67299001" "del" "0.000169789" "00006" "ABCA5_000011" "g.67299000_67299001del" "" "{PMID:Raza 2022:35150007}" "" "977_978delAT" "" "Germline" "yes" "" "0" "" "" "g.69302859_69302860del" "" "pathogenic (recessive)" "" "0000939758" "3" "90" "17" "67299000" "67299001" "del" "0.000169789" "00006" "ABCA5_000011" "g.67299000_67299001del" "" "{PMID:Raza 2022:35150007}" "" "977_978delAT" "" "Germline" "yes" "" "0" "" "" "g.69302859_69302860del" "" "pathogenic (recessive)" "" "0000939759" "3" "90" "17" "67299000" "67299001" "del" "0.000169789" "00006" "ABCA5_000011" "g.67299000_67299001del" "" "{PMID:Raza 2022:35150007}" "" "977_978delAT" "" "Germline" "yes" "" "0" "" "" "g.69302859_69302860del" "" "pathogenic (recessive)" "" "0000939760" "3" "90" "17" "67299000" "67299001" "del" "0.000169789" "00006" "ABCA5_000011" "g.67299000_67299001del" "" "{PMID:Raza 2022:35150007}" "" "977_978delAT" "" "Germline" "yes" "" "0" "" "" "g.69302859_69302860del" "" "pathogenic (recessive)" "" "0000982746" "0" "30" "17" "67190517" "67190517" "subst" "0.00117058" "01804" "ABCA10_000001" "g.67190517T>C" "" "" "" "ABCA10(NM_001377321.1):c.1345+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982747" "0" "50" "17" "67212142" "67212142" "subst" "0.000392556" "01804" "ABCA10_000002" "g.67212142C>G" "" "" "" "ABCA10(NM_001377321.1):c.673-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982748" "0" "50" "17" "67244428" "67244428" "subst" "0" "01804" "ABCA10_000003" "g.67244428C>A" "" "" "" "ABCA5(NM_172232.4):c.4796G>T (p.(Ser1599Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015609" "0" "70" "17" "67299000" "67299001" "del" "0.000169789" "02325" "ABCA5_000011" "g.67299000_67299001del" "" "" "" "ABCA5(NM_018672.5):c.977_978delAT (p.H326Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015610" "0" "30" "17" "67303085" "67303085" "subst" "0.000590975" "02325" "ABCA10_000004" "g.67303085T>C" "" "" "" "ABCA5(NM_018672.5):c.569A>G (p.N190S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042138" "0" "50" "17" "67190043" "67190043" "subst" "3.65827E-5" "01804" "ABCA10_000005" "g.67190043T>C" "" "" "" "ABCA10(NM_001377321.1):c.1433A>G (p.(Asn478Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042139" "0" "30" "17" "67190619" "67190619" "subst" "0.000459935" "01804" "ABCA10_000006" "g.67190619A>G" "" "" "" "ABCA10(NM_001377321.1):c.1252T>C (p.(Tyr418His))" "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 ABCA5 ## Count = 18 "{{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}}" "0000562870" "00025867" "50" "3144" "4" "3144" "4" "c.3144+4dup" "r.spl?" "p.?" "" "0000667624" "00025867" "50" "4320" "1" "4320" "1" "c.4320+1G>C" "r.spl" "p.?" "" "0000680993" "00025867" "50" "87500" "0" "87500" "0" "c.*82571C>G" "r.(=)" "p.(=)" "" "0000680994" "00025867" "50" "1621" "0" "1621" "0" "c.1621T>C" "r.(?)" "p.(Tyr541His)" "" "0000692450" "00025867" "30" "32833" "0" "32833" "0" "c.*27904A>T" "r.(=)" "p.(=)" "" "0000726638" "00025867" "30" "3316" "0" "3316" "0" "c.3316G>A" "r.(?)" "p.(Val1106Ile)" "" "0000939754" "00025867" "90" "4320" "1" "4320" "1" "c.4320+1G>C" "r.4245_4320del" "p.Ile1416Cysfs*5" "33i" "0000939757" "00025867" "90" "977" "0" "978" "0" "c.977_978del" "r.(?)" "p.(His326Argfs*5)" "" "0000939758" "00025867" "90" "977" "0" "978" "0" "c.977_978del" "r.(?)" "p.(His326Argfs*5)" "" "0000939759" "00025867" "90" "977" "0" "978" "0" "c.977_978del" "r.(?)" "p.(His326Argfs*5)" "" "0000939760" "00025867" "90" "977" "0" "978" "0" "c.977_978del" "r.(?)" "p.(His326Argfs*5)" "" "0000982746" "00025867" "30" "58090" "0" "58090" "0" "c.*53161A>G" "r.(=)" "p.(=)" "" "0000982747" "00025867" "50" "36465" "0" "36465" "0" "c.*31536G>C" "r.(=)" "p.(=)" "" "0000982748" "00025867" "50" "4796" "0" "4796" "0" "c.4796G>T" "r.(?)" "p.(Ser1599Ile)" "" "0001015609" "00025867" "70" "977" "0" "978" "0" "c.977_978del" "r.(?)" "p.(His326Argfs*5)" "" "0001015610" "00025867" "30" "569" "0" "569" "0" "c.569A>G" "r.(?)" "p.(Asn190Ser)" "" "0001042138" "00025867" "50" "58564" "0" "58564" "0" "c.*53635A>G" "r.(=)" "p.(=)" "" "0001042139" "00025867" "30" "57988" "0" "57988" "0" "c.*53059T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000304194" "0000667624" "0000441821" "0000939754" "0000441822" "0000939757" "0000441823" "0000939758" "0000441824" "0000939759" "0000441825" "0000939760"