### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AP5B1) # 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}}" "AP5B1" "adaptor-related protein complex 5, beta 1 subunit" "11" "q13.1" "unknown" "NC_000011.9" "UD_136020226003" "" "http://www.LOVD.nl/AP5B1" "" "1" "25104" "91056" "614367" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-04-09 09:23:04" "00006" "2025-04-14 14:18:06" ## 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}}" "00002649" "AP5B1" "adaptor-related protein complex 5, beta 1 subunit" "001" "NM_138368.4" "" "NP_612377.4" "" "" "" "1" "6595" "2637" "65548062" "65541369" "" "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}}" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AP5B1" "04249" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00464729" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Greece" "" "0" "" "" "" "Fam18Pat21" "00464730" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam19Pat22" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00464729" "04249" "00464730" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04249 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000350714" "04249" "00464729" "00006" "Familial, autosomal recessive" "68y" "macular dystrophy; reduced central vision, photophobia, nyctalopia; extensive central chorioretinal atrophy; polyneuropathy; hearing loss (onset later in life)" "55y" "" "reduced central vision, photophobia, nyctalopia" "" "" "" "" "" "macular dystrophy" "0000350715" "04249" "00464730" "00006" "Familial, autosomal recessive" "36y" "macular dystrophy; mostly asymptomatic; early maculopathy with deposits; no neurological symptoms" "36y" "" "mostly asymptomatic" "" "" "" "" "" "macular dystrophy" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000466377" "00464729" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466378" "00464730" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## 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 = 3 "{{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}}" "0001030346" "3" "70" "11" "65547656" "65547656" "del" "0" "00006" "AP5B1_000003" "g.65547656del" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_strong, PM2_mod" "Germline" "" "" "0" "" "" "g.65780185del" "" "likely pathogenic (recessive)" "" "0001030347" "1" "70" "11" "65547501" "65547501" "subst" "1.37159E-5" "00006" "AP5B1_000002" "g.65547501G>A" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_strong, PM2_mod" "Germline" "" "" "0" "" "" "g.65780030G>A" "" "likely pathogenic (recessive)" "" "0001030358" "2" "70" "11" "65547104" "65547104" "del" "0" "00006" "AP5B1_000001" "g.65547104del" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_strong, PM2_mod" "Germline" "" "" "0" "" "" "g.65779633del" "" "likely pathogenic (recessive)" "" ## 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 AP5B1 ## Count = 3 "{{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}}" "0001030346" "00002649" "70" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Leu104TrpfsTer54)" "" "0001030347" "00002649" "70" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Ter)" "" "0001030358" "00002649" "70" "862" "0" "862" "0" "c.862del" "r.(?)" "p.(Gln288SerfsTer29)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000466377" "0001030346" "0000466378" "0001030347" "0000466378" "0001030358"