### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CYP26C1) # 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}}" "CYP26C1" "cytochrome P450, family 26, subfamily C, polypeptide 1" "10" "q23.33" "unknown" "NG_007958.1" "UD_132085310752" "" "https://www.LOVD.nl/CYP26C1" "" "1" "20577" "340665" "608428" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CYP26C1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-22 10:56:02" "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}}" "00006049" "CYP26C1" "cytochrome P450, family 26, subfamily C, polypeptide 1" "001" "NM_183374.2" "" "NP_899230.2" "" "" "" "1" "1569" "1569" "94821021" "94828454" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "03802" "FFDD4" "dysplasia, dermal, facial, focal, type 4 (FFDD-4)" "AR" "614974" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04659" "ISS" "stature, short, idiopathic familial (ISS)" "" "300582" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2015-09-25 17:13:47" "05357" "FFDD" "dysplasia, dermal, facial, focal (FFDD)" "" "" "" "" "" "00006" "2017-12-22 11:03:04" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CYP26C1" "03802" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00144626" "" "" "" "1" "" "01985" "" "" "M" "" "Germany" "" "0" "" "" "" "II:1" "00144627" "" "" "" "2" "" "01985" "" "" "F" "" "Japan" "" "0" "" "" "" "II:1" "00144628" "" "" "" "1" "" "01985" "" "" "F" "no" "Germany" "" "0" "" "" "" "II:1" "00144629" "" "" "" "2" "" "01985" "" "" "M" "no" "Germany" "" "0" "" "" "" "II:1" "00144887" "" "" "" "2" "" "00006" "{PMID:Slavotinek 2013:23161670}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents/sibs" "F" "no" "(United States)" "" "0" "" "" "English/Nordic/native American;Mexican" "23161670-FamPatII3" "00144888" "" "" "" "1" "" "00006" "{PMID:Prescott 2006:16530710}, {PMID:Slavotinek 2013:23161670}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Belgium" "" "0" "" "" "" "23161670-Fam2Pat1" "00144889" "" "" "" "1" "" "00006" "{PMID:Prescott 2006:16530710}, {PMID:Slavotinek 2013:23161670}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Norway" "" "0" "" "" "" "23161670-Fam3Pat1" "00144890" "" "" "" "1" "" "00006" "{PMID:Slavotinek 2013:23161670}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "(United States)" "" "0" "" "" "" "23161670-Fam4Pat1" "00144891" "" "" "" "2" "" "00006" "{PMID:Slavotinek 2013:23161670}" "controls" "" "" "" "" "0" "" "" "" "23161670-con" "00290175" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00144626" "04659" "00144627" "04659" "00144628" "04659" "00144629" "04659" "00144887" "05357" "00144888" "04659" "00144889" "04659" "00144890" "04659" "00290175" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03802, 04659, 05357 ## Count = 8 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000117625" "05357" "00144887" "00006" "Familial, autosomal recessive" "" "see paper, ..., congenital hypopigmented skin lesions cheeks" "00y00m01d" "" "congenital hypopigmented skin lesions cheeks" "" "" "" "" "" "" "" "0000117626" "05357" "00144888" "00006" "Familial, autosomal recessive" "" "see paper, …" "" "" "" "" "" "" "" "" "" "" "0000117627" "05357" "00144889" "00006" "Familial, autosomal recessive" "" "see paper, …" "" "" "" "" "" "" "" "" "" "" "0000117628" "05357" "00144890" "00006" "Familial, autosomal recessive" "" "see paper, …" "" "" "" "" "" "" "" "" "" "" "0000117629" "04659" "00144628" "01985" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000117630" "04659" "00144626" "01985" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000117631" "04659" "00144627" "01985" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000117632" "04659" "00144629" "01985" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000145482" "00144626" "1" "01985" "01985" "2017-12-18 15:58:10" "" "" "SEQ" "DNA" "" "" "0000145483" "00144627" "1" "01985" "01985" "2017-12-18 16:03:59" "" "" "SEQ" "DNA" "" "" "0000145485" "00144628" "1" "01985" "01985" "2017-12-18 16:10:01" "" "" "SEQ" "DNA" "" "" "0000145486" "00144629" "1" "01985" "01985" "2017-12-18 16:14:23" "" "" "SEQ" "DNA" "" "" "0000145744" "00144887" "1" "00006" "00006" "2017-12-22 11:06:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000145745" "00144888" "1" "00006" "00006" "2017-12-22 11:42:21" "" "" "SEQ" "DNA" "" "" "0000145746" "00144889" "1" "00006" "00006" "2017-12-22 11:42:21" "" "" "SEQ" "DNA" "" "" "0000145747" "00144890" "1" "00006" "00006" "2017-12-22 11:42:21" "" "" "SEQ" "DNA" "" "" "0000145748" "00144891" "1" "00006" "00006" "2017-12-22 11:42:21" "" "" "SEQ" "DNA" "" "" "0000291343" "00290175" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000145482" "CYP26C1" "0000145482" "SHOX" "0000145483" "CYP26C1" "0000145483" "SHOX" "0000145485" "CYP26C1" "0000145485" "SHOX" "0000145486" "CYP26C1" "0000145486" "SHOX" "0000145744" "CYP26C1" "0000145745" "CYP26C1" "0000145746" "CYP26C1" "0000145747" "CYP26C1" "0000145748" "CYP26C1" ## 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 = 19 "{{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}}" "0000237855" "0" "70" "10" "94821168" "94821168" "subst" "6.58822E-5" "01985" "CYP26C1_000004" "g.94821168C>T" "" "" "" "" "" "Not applicable" "" "rs200946223" "0" "" "" "g.93061411C>T" "" "likely pathogenic" "" "0000237856" "21" "70" "10" "94821918" "94821918" "subst" "0.00164464" "01985" "CYP26C1_000005" "g.94821918A>C" "" "" "" "" "" "Germline" "" "rs201284617" "0" "" "" "g.93062161A>C" "" "likely pathogenic" "" "0000237858" "0" "70" "10" "94825761" "94825761" "subst" "0" "01985" "CYP26C1_000003" "g.94825761G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.93066004G>A" "" "likely pathogenic" "" "0000237859" "21" "70" "10" "94824136" "94824136" "subst" "0" "01985" "CYP26C1_000006" "g.94824136A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.93064379A>C" "" "likely pathogenic" "" "0000238245" "21" "90" "10" "94824276" "94824283" "dup" "0" "00006" "CYP26C1_000001" "g.94824276_94824283dup" "" "{PMID:Slavotinek 2013:23161670}" "" "844_851dupCCATGCA" "" "Germline" "yes" "" "0" "" "" "g.93064519_93064526dup" "" "pathogenic" "" "0000238246" "11" "90" "10" "94828318" "94828318" "subst" "9.14783E-5" "00006" "CYP26C1_000002" "g.94828318G>A" "" "{PMID:Slavotinek 2013:23161670}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93068561G>A" "" "pathogenic" "" "0000238249" "3" "90" "10" "94824276" "94824283" "dup" "0" "00006" "CYP26C1_000001" "g.94824276_94824283dup" "" "{PMID:Slavotinek 2013:23161670}" "" "844_851dupCCATGCA" "" "Germline" "yes" "" "0" "" "" "g.93064519_93064526dup" "" "pathogenic" "" "0000238250" "3" "90" "10" "94824276" "94824283" "dup" "0" "00006" "CYP26C1_000001" "g.94824276_94824283dup" "" "{PMID:Slavotinek 2013:23161670}" "" "844_851dupCCATGCA" "" "Germline" "yes" "" "0" "" "" "g.93064519_93064526dup" "" "pathogenic" "" "0000238251" "3" "90" "10" "94824276" "94824283" "dup" "0" "00006" "CYP26C1_000001" "g.94824276_94824283dup" "" "{PMID:Slavotinek 2013:23161670}" "" "844_851dupCCATGCA" "" "Germline" "yes" "" "0" "" "" "g.93064519_93064526dup" "" "pathogenic" "" "0000238252" "1" "90" "10" "94824276" "94824283" "dup" "0" "00006" "CYP26C1_000001" "g.94824276_94824283dup" "2/754 chromosomes" "{PMID:Slavotinek 2013:23161670}" "" "844_851dupCCATGCA" "" "Germline" "yes" "" "0" "" "" "g.93064519_93064526dup" "" "pathogenic" "" "0000238253" "0" "90" "10" "94824276" "94824283" "dup" "0" "00006" "CYP26C1_000001" "g.94824276_94824283dup" "" "{PMID:Slavotinek 2013:23161670}" "" "" "expression cloning shows no CYP26C1 activity" "In vitro (cloned)" "" "" "0" "" "" "g.93064519_93064526dup" "" "NA" "" "0000238254" "0" "90" "10" "94828318" "94828318" "subst" "9.14783E-5" "00006" "CYP26C1_000002" "g.94828318G>A" "" "{PMID:Slavotinek 2013:23161670}" "" "" "expression cloning shows no CYP26C1 activity" "In vitro (cloned)" "" "" "0" "" "" "g.93068561G>A" "" "NA" "" "0000270672" "0" "10" "10" "94822756" "94822756" "subst" "0.0161048" "02326" "CYP26C1_000007" "g.94822756C>T" "" "" "" "CYP26C1(NM_183374.3):c.705+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93062999C>T" "" "benign" "" "0000274706" "0" "50" "10" "94825713" "94825713" "subst" "0.000258657" "01943" "CYP26C1_000008" "g.94825713G>A" "" "" "" "CYP26C1(NM_183374.3):c.862G>A (p.E288K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93065956G>A" "" "VUS" "" "0000541648" "0" "90" "10" "94824277" "94824283" "dup" "0" "02325" "CYP26C1_000009" "g.94824277_94824283dup" "" "" "" "CYP26C1(NM_183374.3):c.845_851dup (p.(Gln284HisfsTer129)), CYP26C1(NM_183374.3):c.845_851dupCCATGCA (p.Q284Hfs*129)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93064520_93064526dup" "" "pathogenic" "" "0000648032" "1" "30" "10" "94821918" "94821918" "subst" "0.00164464" "03575" "CYP26C1_000005" "g.94821918A>C" "6/2773 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous; {DB:CLININrs201284617}" "Germline" "" "rs201284617" "0" "" "" "g.93062161A>C" "" "likely benign" "" "0000929728" "0" "50" "10" "94825766" "94825766" "subst" "0" "02325" "CYP26C1_000010" "g.94825766C>A" "" "" "" "CYP26C1(NM_183374.3):c.915C>A (p.S305R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038101" "0" "50" "10" "94824277" "94824283" "dup" "0" "01804" "CYP26C1_000009" "g.94824277_94824283dup" "" "" "" "CYP26C1(NM_183374.3):c.845_851dup (p.(Gln284HisfsTer129)), CYP26C1(NM_183374.3):c.845_851dupCCATGCA (p.Q284Hfs*129)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038102" "0" "50" "10" "94826025" "94826025" "subst" "0" "01804" "CYP26C1_000011" "g.94826025C>T" "" "" "" "CYP26C1(NM_183374.3):c.1174C>T (p.(Arg392Cys))" "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 CYP26C1 ## Count = 19 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000237855" "00006049" "70" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Pro50Ser)" "1" "" "0000237856" "00006049" "70" "356" "0" "356" "0" "c.356A>C" "r.(?)" "p.(Gln119Pro)" "2" "" "0000237858" "00006049" "70" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Ala304Thr)" "5" "" "0000237859" "00006049" "70" "706" "-2" "706" "-2" "c.706-2A>C" "r.spl" "p.?" "3i" "" "0000238245" "00006049" "90" "844" "0" "851" "0" "c.844_851dup" "r.(?)" "p.(Gln284Hisfs*6)" "4" "" "0000238246" "00006049" "90" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Arg478His)" "6" "" "0000238249" "00006049" "90" "844" "0" "851" "0" "c.844_851dup" "r.(?)" "p.(Gln284Hisfs*6)" "4" "" "0000238250" "00006049" "90" "844" "0" "851" "0" "c.844_851dup" "r.(?)" "p.(Gln284Hisfs*6)" "4" "" "0000238251" "00006049" "90" "844" "0" "851" "0" "c.844_851dup" "r.(?)" "p.(Gln284Hisfs*6)" "4" "" "0000238252" "00006049" "90" "844" "0" "851" "0" "c.844_851dup" "r.(?)" "p.(Gln284Hisfs*6)" "4" "" "0000238253" "00006049" "90" "844" "0" "851" "0" "c.844_851dup" "r.(?)" "p.Gln284Hisfs*6" "4" "" "0000238254" "00006049" "90" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.Arg478His" "6" "" "0000270672" "00006049" "10" "705" "4" "705" "4" "c.705+4C>T" "r.spl?" "p.?" "" "" "0000274706" "00006049" "50" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Glu288Lys)" "" "" "0000541648" "00006049" "90" "845" "0" "851" "0" "c.845_851dup" "r.(?)" "p.(Gln284HisfsTer129)" "" "" "0000648032" "00006049" "30" "356" "0" "356" "0" "c.356A>C" "r.(?)" "p.(Gln119Pro)" "" "" "0000929728" "00006049" "50" "915" "0" "915" "0" "c.915C>A" "r.(?)" "p.(Ser305Arg)" "" "" "0001038101" "00006049" "50" "845" "0" "851" "0" "c.845_851dup" "r.(?)" "p.(Gln284HisfsTer129)" "" "" "0001038102" "00006049" "50" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Arg392Cys)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000145482" "0000237855" "0000145483" "0000237856" "0000145485" "0000237858" "0000145486" "0000237859" "0000145744" "0000238245" "0000145744" "0000238246" "0000145745" "0000238249" "0000145746" "0000238250" "0000145747" "0000238251" "0000145748" "0000238252" "0000291343" "0000648032"