### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DSC3) # 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}}" "DSC3" "desmocollin 3" "18" "q12.1" "unknown" "NG_016782.1" "UD_132118306865" "" "https://www.LOVD.nl/DSC3" "" "1" "3037" "1825" "600271" "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/DSC3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-07-14 11:04:10" "00006" "2025-01-23 15:32:16" ## 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}}" "00006703" "DSC3" "transcript variant Dsc3a" "001" "NM_001941.3" "" "NP_001932.2" "" "" "" "-155" "6780" "2691" "28622781" "28570052" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00356" "MCOP" "microphthalmia (MCOP)" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2015-12-07 07:11:25" "03256" "HYPTSV" "hypotrichosis and recurrent skin vesicles" "AR" "613102" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-07-14 11:04:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DSC3" "03256" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00332087" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "patient" "" "no" "Saudi Arabia" "" "0" "" "" "" "F15‐M" "00413299" "" "" "" "1" "" "03566" "{PMID:Hawsawi 2022:36061207}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPatII1" "00413300" "" "" "" "4" "" "00006" "{PMID:Ayub 2009:19765682}" "4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Afghanistan" "" "0" "" "" "" "family" "00413301" "" "" "" "1" "" "00006" "{PMID:Onoufriadis 2020:31790667}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sister" "M" "" "Egypt" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00332087" "00356" "00413299" "00198" "00413300" "03256" "00413301" "03256" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00356, 03256 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000250278" "00356" "00332087" "00000" "Familial, autosomal recessive" "" "hypoplastic columella, flat nasal bridge, micropenis, colobomatous microphthalmia" "" "" "" "" "" "" "" "" "" "syndromic microphthalmia" "" "0000305280" "00198" "00413299" "03566" "Familial, autosomal recessive" "04y" "see paper; ..., recurrent skin blisters extremities" "" "" "" "" "" "" "" "" "HYPTSV" "hypotrichosis" "" "0000305281" "03256" "00413300" "00006" "Familial, autosomal recessive" "" "see paper;, ..., hypotrichosis, recurrent skin vesicles" "" "" "" "" "" "" "" "" "HYPTSV" "hypotrichosis" "" "0000305283" "03256" "00413301" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., hypotrichosis" "" "" "" "" "" "" "" "" "HYPTSV" "hypotrichosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000333307" "00332087" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000414572" "00413299" "1" "03566" "03566" "2022-07-14 09:11:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000414573" "00413300" "1" "00006" "00006" "2022-07-14 11:15:47" "" "" "SEQ" "DNA" "" "" "0000414574" "00413301" "1" "00006" "00006" "2022-07-14 11:21:53" "00006" "2022-07-14 11:26:37" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000333307" "DSC3" "0000414573" "DSC3" ## 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 = 17 "{{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}}" "0000248913" "0" "10" "18" "28611061" "28611061" "subst" "0.393757" "02325" "DSC3_000003" "g.28611061A>T" "" "" "" "DSC3(NM_024423.4):c.232T>A (p.S78T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31031095A>T" "" "benign" "" "0000249237" "0" "10" "18" "28605715" "28605715" "subst" "0.505967" "02325" "DSC3_000001" "g.28605715A>T" "" "" "" "DSC3(NM_024423.4):c.630+11T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31025749A>T" "" "benign" "" "0000249238" "0" "10" "18" "28611139" "28611139" "subst" "0.999954" "02325" "DSC3_000004" "g.28611139A>C" "" "" "" "DSC3(NM_024423.4):c.155-1T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31031173=" "" "benign" "" "0000267552" "0" "10" "18" "28610988" "28610988" "subst" "0.394413" "02325" "DSC3_000002" "g.28610988C>T" "" "" "" "DSC3(NM_024423.4):c.305G>A (p.R102K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31031022C>T" "" "benign" "" "0000275557" "0" "30" "18" "28612233" "28612233" "subst" "0.0030182" "01943" "DSC3_000005" "g.28612233G>T" "" "" "" "DSC3(NM_024423.3):c.79C>A (p.R27S), DSC3(NM_024423.4):c.79C>A (p.R27S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31032267G>T" "" "likely benign" "" "0000564273" "0" "10" "18" "28586964" "28586964" "subst" "0.400917" "02325" "DSC3_000006" "g.28586964A>G" "" "" "" "DSC3(NM_024423.4):c.1797T>C (p.P599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31006998A>G" "" "benign" "" "0000564274" "0" "50" "18" "28587049" "28587049" "subst" "4.06712E-6" "02325" "DSC3_000007" "g.28587049T>C" "" "" "" "DSC3(NM_024423.4):c.1712A>G (p.N571S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31007083T>C" "" "VUS" "" "0000564275" "0" "50" "18" "28598682" "28598682" "subst" "0" "02325" "DSC3_000008" "g.28598682T>C" "" "" "" "DSC3(NM_024423.4):c.1027A>G (p.I343V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31018716T>C" "" "VUS" "" "0000564277" "0" "30" "18" "28612233" "28612233" "subst" "0.0030182" "02325" "DSC3_000005" "g.28612233G>T" "" "" "" "DSC3(NM_024423.3):c.79C>A (p.R27S), DSC3(NM_024423.4):c.79C>A (p.R27S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31032267G>T" "" "likely benign" "" "0000617020" "0" "30" "18" "28581601" "28581601" "subst" "0.00243043" "02325" "DSC3_000010" "g.28581601G>A" "" "" "" "DSC3(NM_024423.4):c.2218C>T (p.P740S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31001635G>A" "" "likely benign" "" "0000658334" "0" "50" "18" "28605748" "28605748" "subst" "0.000215598" "02325" "DSC3_000011" "g.28605748C>T" "" "" "" "DSC3(NM_024423.4):c.608G>A (p.R203H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31025782C>T" "" "VUS" "" "0000726840" "0" "30" "18" "28574450" "28574450" "subst" "0.00244653" "02325" "DSC3_000012" "g.28574450C>T" "" "" "" "DSC3(NM_024423.4):c.2506G>A (p.G836R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730878" "3" "50" "18" "28577016" "28577016" "subst" "0.000101661" "00000" "DSC3_000013" "g.28577016T>C" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.30997050T>C" "" "VUS" "" "0000872262" "3" "90" "18" "28612158" "28612158" "subst" "0" "03566" "DSC3_000014" "g.28612158C>G" "" "{PMID:Hawsawi 2022:36061207}" "" "" "" "Germline" "" "" "0" "" "" "g.31032192C>G" "" "pathogenic (recessive)" "" "0000872263" "3" "90" "18" "28581690" "28581690" "subst" "4.12712E-6" "00006" "DSC3_000015" "g.28581690A>C" "" "{PMID:Ayub 2009:19765682}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31001724A>C" "" "pathogenic (recessive)" "" "0000872264" "3" "90" "18" "28581639" "28581639" "subst" "0" "00006" "DSC3_000016" "g.28581639A>C" "" "{PMID:Onoufriadis 2020:31790667}" "" "" "" "Germline" "" "" "0" "" "" "g.31001673A>C" "" "pathogenic (recessive)" "" "0001015668" "0" "50" "18" "28598630" "28598630" "dup" "0" "02325" "DSC3_000017" "g.28598630dup" "" "" "" "DSC3(NM_024423.4):c.1077+2dupT" "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 DSC3 ## Count = 17 "{{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}}" "0000248913" "00006703" "10" "232" "0" "232" "0" "c.232T>A" "r.(?)" "p.(Ser78Thr)" "" "0000249237" "00006703" "10" "630" "11" "630" "11" "c.630+11T>A" "r.(=)" "p.(=)" "" "0000249238" "00006703" "10" "155" "-1" "155" "-1" "c.155-1T>G" "r.spl?" "p.?" "" "0000267552" "00006703" "10" "305" "0" "305" "0" "c.305G>A" "r.(?)" "p.(Arg102Lys)" "" "0000275557" "00006703" "30" "79" "0" "79" "0" "c.79C>A" "r.(?)" "p.(Arg27Ser)" "" "0000564273" "00006703" "10" "1797" "0" "1797" "0" "c.1797T>C" "r.(?)" "p.(Pro599=)" "" "0000564274" "00006703" "50" "1712" "0" "1712" "0" "c.1712A>G" "r.(?)" "p.(Asn571Ser)" "" "0000564275" "00006703" "50" "1027" "0" "1027" "0" "c.1027A>G" "r.(?)" "p.(Ile343Val)" "" "0000564277" "00006703" "30" "79" "0" "79" "0" "c.79C>A" "r.(?)" "p.(Arg27Ser)" "" "0000617020" "00006703" "30" "2218" "0" "2218" "0" "c.2218C>T" "r.(?)" "p.(Pro740Ser)" "" "0000658334" "00006703" "50" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Arg203His)" "" "0000726840" "00006703" "30" "2494" "-112" "2494" "-112" "c.2494-112G>A" "r.(=)" "p.(=)" "" "0000730878" "00006703" "50" "" "0" "" "0" "c.2236‐2A>G" "r.2236_2493del" "p.(Cys746_Glu831del)" "" "0000872262" "00006703" "90" "154" "0" "154" "0" "c.154G>C" "r.(?)" "p.(Val52Leu)" "" "0000872263" "00006703" "90" "2129" "0" "2129" "0" "c.2129T>G" "r.(?)" "p.(Leu710*)" "14" "0000872264" "00006703" "90" "2180" "0" "2180" "0" "c.2180T>G" "r.(?)" "p.(Leu727*)" "" "0001015668" "00006703" "50" "1077" "2" "1077" "2" "c.1077+2dup" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000333307" "0000730878" "0000414572" "0000872262" "0000414573" "0000872263" "0000414574" "0000872264"