### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CYP2R1) # 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}}" "CYP2R1" "cytochrome P450, family 2, subfamily R, polypeptide 1" "11" "p15.2" "unknown" "NG_007936.1" "UD_132085430737" "" "https://www.LOVD.nl/CYP2R1" "" "1" "20580" "120227" "608713" "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/CYP2R1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-25 12:18:43" "00006" "2025-11-23 13:32:04" ## 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}}" "00006009" "CYP2R1" "cytochrome P450, family 2, subfamily R, polypeptide 1" "001" "NM_024514.4" "" "NP_078790.2" "" "" "" "1" "1619" "1506" "14913751" "14899555" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02284" "VDDR1B" "vitamin D hydroxylation-deficient rickets, type 1b (VDDR-1B)" "AR" "600081" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CYP2R1" "02284" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00117372" "" "" "" "1" "" "02229" "{PMID:Molin 2017:28548312}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/brother" "M" "no" "France" "" "0" "yes" "25-OH-D3" "white" "28548312-Fam1PatII2" "00117376" "" "" "" "1" "" "00006" "{PMID:Cheng 2004:15128933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "?" "Nigeria" "" "0" "" "" "" "15128933-Pat" "00117377" "" "" "" "1" "" "00006" "{PMID:Cheng 2004:15128933}" "50 controls analysed" "" "" "Nigeria" "" "0" "" "" "" "15128933-con" "00143833" "" "" "" "6" "" "00006" "{PMID:Molin 2017:28548312}" "2-generation family, 6 affecteds (3F, 3M), unaffected heterozygous carrier parents" "F;M" "yes" "Morocco" "" "0" "" "" "" "28548312-Fam2" "00186186" "" "" "" "1" "" "00008" "Reference haplotype" "" "" "" "" "" "0" "" "" "" "" "00211184" "" "" "" "1" "" "00006" "{PMID:Manousaki 2018:30526863}" "association analysis" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "30526863-cases" "00469925" "" "" "" "1" "" "00006" "{PMID:Jacob 2023:36692815}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "India" "" "0" "" "" "Asia" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00117372" "02284" "00117376" "02284" "00117377" "00000" "00143833" "02284" "00211184" "00198" "00469925" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02284 ## Count = 6 "{{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}}" "0000092606" "02284" "00117372" "02229" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092609" "02284" "00117376" "00006" "Familial, autosomal recessive" "" "age onset 2-7y; before treatment had low normal serum calcium levels (2.00–2.32 mM; normal 2.12–2.62), low serum phosphate levels (0.84–0.87 mM; normal 0.97–1.45), elevated serum alkaline phosphatase levels (2,360–3,000 u/l; normal 100–320), serum 1alpha,25-dihydroxyvitamin D levels (137–142 pM, normal 48–182), low 25-hydroxyvitamin D levels (10–12 nM; normal 25–137)" "" "" "bone abnormalities lower extremities" "" "" "" "" "" "" "" "" "0000116611" "02284" "00143833" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000159666" "00198" "00211184" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "reduced vitamine 25-hydroxyvitamin D level" "" "0000159667" "00198" "00211184" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple sclerosis" "" "0000355070" "00198" "00469925" "00006" "Familial, autosomal recessive" "3y6m" "see paper; ..., wrist widening; no pectus carinatum; no pigeon chest; no harisson sulcus; no rachitic rosary; no pot belly; no double malleoli; genu varum; no genu valgum; pes planus; osteopenia; no delayed carpal bone ossification; small epiphyses; frayed and/or irregular metaphyses; bowing lower limbs;" "" "" "" "" "" "" "" "" "VDDR1B" "rickets" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000117836" "00117372" "1" "02229" "02229" "2017-08-23 20:01:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "whole blood" "" "0000117840" "00117376" "1" "00006" "00006" "2017-08-25 12:28:52" "" "" "SEQ" "DNA" "" "" "0000117841" "00117377" "1" "00006" "00006" "2017-08-25 12:34:33" "" "" "SEQ" "DNA" "" "" "0000144692" "00143833" "1" "00006" "00006" "2017-12-08 12:44:35" "" "" "SEQ" "DNA" "" "" "0000187154" "00186186" "1" "00008" "00008" "2018-11-01 17:40:32" "" "" "SEQ" "DNA" "" "" "0000212261" "00211184" "1" "00006" "00006" "2018-12-31 15:53:22" "" "" "SEQ" "DNA" "" "" "0000471593" "00469925" "1" "00006" "00006" "2025-11-23 13:32:02" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000117836" "CYP2R1" "0000117840" "CYP2R1" "0000117841" "CYP2R1" "0000144692" "CYP2R1" "0000187154" "CYP2R1" "0000212261" "CYP2R1" ## 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}}" "0000193781" "3" "90" "11" "14913615" "14913628" "delins" "0" "02229" "CYP2R1_000001" "g.14913615_14913628delinsCG" "" "{PMID:Molin 2017:28548312}" "" "124_138delinsCGG" "" "Germline" "yes" "" "0" "" "" "g.14892069_14892082delinsCG" "" "pathogenic" "" "0000193788" "3" "90" "11" "14907393" "14907393" "subst" "0.000256077" "00006" "CYP2R1_000002" "g.14907393A>G" "" "{PMID:Cheng 2004:15128933}, {OMIM608713:0001}" "" "" "not in 100 African-American control chromosomes" "Germline" "" "rs61495246" "0" "" "" "g.14885847A>G" "" "pathogenic" "" "0000193789" "1" "90" "11" "14907393" "14907393" "subst" "0.000256077" "00006" "CYP2R1_000002" "g.14907393A>G" "1/100 control chromosomes Nigeria" "{PMID:Cheng 2004:15128933}" "" "" "" "Germline" "" "rs61495246" "0" "" "" "g.14885847A>G" "" "pathogenic" "" "0000193790" "0" "90" "11" "14907393" "14907393" "subst" "0.000256077" "00006" "CYP2R1_000002" "g.14907393A>G" "" "{PMID:Cheng 2004:15128933}" "" "" "expression cloning HEK293 cells no activity" "In vitro (cloned)" "" "" "0" "" "" "g.14885847A>G" "" "NA" "" "0000235527" "3" "90" "11" "14907393" "14907393" "subst" "0.000256077" "00006" "CYP2R1_000002" "g.14907393A>G" "" "{PMID:Molin 2017:28548312}" "" "" "" "Germline" "yes" "" "0" "" "" "g.14885847A>G" "" "pathogenic" "" "0000267258" "0" "10" "11" "14913575" "14913575" "subst" "0.414991" "02325" "CYP2R1_000003" "g.14913575G>A" "" "" "" "CYP2R1(NM_024514.5):c.177C>T (p.S59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14892029G>A" "" "benign" "" "0000339462" "0" "10" "11" "14913575" "14913575" "subst" "0.414991" "02327" "CYP2R1_000003" "g.14913575G>A" "" "" "" "CYP2R1(NM_024514.5):c.177C>T (p.S59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14892029G>A" "" "benign" "" "0000413198" "1" "33" "11" "14907393" "14907393" "subst" "0.000256077" "00008" "CYP2R1_000002" "g.14907393A>G" "" "{PMID:Cheng 2004:15128933}" "" "6359T>C (L99P)" "Enzime activity in_vitro: Abolished" "In vitro (cloned)" "" "rs61495246" "0" "" "" "g.14885847A>G" "" "NA" "" "0000413233" "1" "33" "11" "14907393" "14907393" "subst" "0.000256077" "00008" "CYP2R1_000002" "g.14907393A>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "6359T>C (L99P)" "reference haplotype CYP2R1*2" "Germline" "" "rs61495246" "0" "" "" "g.14885847A>G" "" "likely benign" "" "0000443908" "1" "90" "11" "14900931" "14900931" "subst" "0.0174455" "00006" "CYP2R1_000004" "g.14900931G>A" "" "{PMID:Manousaki 2018:30526863}" "" "Asp120Asp" "increased risk vitamin D insufficiency (OR 2.2) and multiple sclerosis (OR 1.4)" "Germline" "" "rs117913124" "0" "" "" "g.14879385G>A" "" "benign (!)" "" "0000613189" "0" "50" "11" "14913567" "14913567" "subst" "0" "02327" "CYP2R1_000005" "g.14913567G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14892021G>A" "" "VUS" "" "0000852832" "0" "50" "11" "14900968" "14900968" "subst" "0" "02326" "CYP2R1_000006" "g.14900968T>G" "" "" "" "CYP2R1(NM_024514.4):c.1022A>C (p.D341A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889708" "0" "30" "11" "14902326" "14902326" "subst" "0.00437514" "02326" "CYP2R1_000007" "g.14902326T>A" "" "" "" "CYP2R1(NM_024514.4):c.368-12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979468" "0" "30" "11" "14899811" "14899811" "subst" "4.48727E-5" "01804" "CYP2R1_000008" "g.14899811G>A" "" "" "" "CYP2R1(NM_024514.5):c.1363C>T (p.(Arg455Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979469" "0" "50" "11" "14902249" "14902249" "subst" "1.30569E-5" "01804" "CYP2R1_000009" "g.14902249G>A" "" "" "" "CYP2R1(NM_024514.5):c.433C>T (p.(Arg145Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038355" "0" "50" "11" "14902215" "14902215" "subst" "0.000125388" "01804" "CYP2R1_000010" "g.14902215G>C" "" "" "" "CYP2R1(NM_024514.5):c.467C>G (p.(Ser156Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059808" "1" "50" "11" "14902087" "14902087" "subst" "8.14843E-6" "00006" "CYP2R1_000012" "g.14902087G>A" "" "{PMID:Jacob 2023:36692815}" "" "" "ACMG PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.14880541G>A" "" "VUS" "ACMG" "0001059811" "2" "50" "11" "14900660" "14900660" "subst" "8.15189E-6" "00006" "CYP2R1_000011" "g.14900660C>G" "" "{PMID:Jacob 2023:36692815}" "" "" "ACMG PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.14879114C>G" "" "VUS" "ACMG" ## 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 CYP2R1 ## 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}}" "{{VariantOnTranscript/Haplotype}}" "0000193781" "00006009" "90" "124" "0" "137" "0" "c.124_137delinsCG" "r.(?)" "p.(Gly42_Leu46delinsArg)" "1" "" "0000193788" "00006009" "90" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Leu99Pro)" "2" "CYP2R1*2" "0000193789" "00006009" "90" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Leu99Pro)" "2" "" "0000193790" "00006009" "90" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.Leu99Pro" "2" "" "0000235527" "00006009" "90" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Leu99Pro)" "2" "" "0000267258" "00006009" "10" "177" "0" "177" "0" "c.177C>T" "r.(?)" "p.(Ser59=)" "" "" "0000339462" "00006009" "10" "177" "0" "177" "0" "c.177C>T" "r.(?)" "p.(Ser59=)" "" "" "0000413198" "00006009" "33" "296" "0" "296" "0" "c.296T>C" "r.(=)" "p.(Leu99Pro)" "1" "CYP2R1*2" "0000413233" "00006009" "33" "296" "0" "296" "0" "c.296T>C" "r.(=)" "p.(Leu99Pro)" "1" "CYP2R1*2" "0000443908" "00006009" "90" "1059" "0" "1059" "0" "c.1059C>T" "r.(=)" "p.(Asp353=)" "" "" "0000613189" "00006009" "50" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Pro62Leu)" "" "" "0000852832" "00006009" "50" "1022" "0" "1022" "0" "c.1022A>C" "r.(?)" "p.(Asp341Ala)" "" "" "0000889708" "00006009" "30" "368" "-12" "368" "-12" "c.368-12A>T" "r.(=)" "p.(=)" "" "" "0000979468" "00006009" "30" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455Trp)" "" "" "0000979469" "00006009" "50" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145*)" "" "" "0001038355" "00006009" "50" "467" "0" "467" "0" "c.467C>G" "r.(?)" "p.(Ser156Cys)" "" "" "0001059808" "00006009" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Ter)" "3" "" "0001059811" "00006009" "50" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Gly444Arg)" "4" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000117836" "0000193781" "0000117840" "0000193788" "0000117841" "0000193789" "0000144692" "0000235527" "0000187154" "0000413233" "0000212261" "0000443908" "0000471593" "0001059808" "0000471593" "0001059811"