### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LEPR) # 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}}" "LEPR" "leptin receptor" "1" "p31.3" "unknown" "LRG_283" "UD_144425348050" "" "" "" "1" "6554" "3953" "601007" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-12-27 10:25:37" "" "" "00005" "2021-08-30 15:11:37" ## 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}}" "00000083" "LEPR" "transcript variant 1" "001" "NM_002303.5" "" "NP_002294.2" "" "" "" "-185" "3976" "3498" "65420652" "65637493" "00001" "2020-12-27 10:25:37" "" "" ## 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}}" "00048" "-" "Obesity" "" "" "" "" "" "00001" "2020-12-22 14:56:53" "" "" "00050" "T2DM" "Type 2 Diabetes Mellitus" "" "" "" "" "" "00001" "2020-12-28 15:37:52" "" "" "00072" "MetS" "metabolic syndrome" "AD" "605552" "" "" "" "00001" "2021-02-25 09:26:06" "" "" "00074" "NAFLD" "non-alcoholic fatty liver disease" "" "" "" "" "" "00001" "2021-03-01 15:05:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "LEPR" "00048" "LEPR" "00050" "LEPR" "00072" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000300" "" "" "" "1" "" "00002" "{PMID:Sook-Ha Fan et al. (2014):24947733}" "" "" "Malaysia" "Malay" "Perak" "" "00000301" "" "" "" "1" "" "00002" "{PMID:Sook-Ha Fan et al. (2014):24947733}" "" "" "Malaysia" "Chinese" "Perak" "" "00000302" "" "" "" "1" "" "00002" "{PMID:Sook-Ha Fan et al. (2014):24947733}" "" "" "Malaysia" "Indian" "Perak" "" "00000303" "" "" "" "1" "" "00002" "{PMID:Zoe Yi Ng et al. (2014):24628746}" "" "" "Malaysia" "Malay" "" "" "00000304" "" "" "" "1" "" "00002" "{PMID:Zoe Yi Ng et al. (2014):24628746}" "" "" "Malaysia" "Chinese" "" "" "00000305" "" "" "" "1" "" "00002" "{PMID:Zoe Yi Ng et al. (2014):24628746}" "" "" "Malaysia" "Indian" "" "" "00000306" "" "" "" "1" "" "00002" "{PMID:Ali Etemad et al. (2013):24051404}" "" "" "Malaysia" "Malay" "" "" "00000307" "" "" "" "1" "" "00002" "{PMID:Ali Etemad et al. (2013):24051404}" "" "" "Malaysia" "Chinese" "" "" "00000308" "" "" "" "1" "" "00002" "{PMID:Ali Etemad et al. (2013):24051404}" "" "" "Malaysia" "Indian" "" "" "00000429" "" "" "" "1" "" "00004" "{DOI:Suet-Fang Liew (2009):10.3923/aje.2009.49.58}" "" "" "Setapak, KL" "" "" "" "00000462" "" "" "" "1" "" "00004" "{PMID:Siti Norsyuhada Roffeei et al.(2014):24624915}" "" "" "Malaysia" "" "" "" "00000467" "" "" "" "1" "" "00004" "{PMID:Shamsul Mohd Zain et al.(2013):23278404}" "" "" "Malaysia" "Malay" "" "" "00000468" "" "" "" "1" "" "00004" "{PMID:Shamsul Mohd Zain et al.(2013):23278404}" "" "" "Malaysia" "Chinese" "" "" "00000469" "" "" "" "1" "" "00004" "{PMID:Shamsul Mohd Zain et al.(2013):23278404}" "" "" "Malaysia" "Indian" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00000300" "00048" "00000301" "00048" "00000302" "00048" "00000303" "00048" "00000304" "00048" "00000305" "00048" "00000306" "00050" "00000307" "00050" "00000308" "00050" "00000429" "00048" "00000462" "00072" "00000467" "00074" "00000468" "00074" "00000469" "00074" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00048, 00050, 00072, 00074 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000315" "00000300" "1" "00002" "00002" "2020-12-28 14:30:04" "" "" "PCR;SEQ" "DNA" "0000000316" "00000301" "1" "00002" "00002" "2020-12-28 14:39:46" "" "" "PCR;SEQ" "DNA" "0000000317" "00000302" "1" "00002" "00002" "2020-12-28 14:47:51" "" "" "PCR;SEQ" "DNA" "0000000318" "00000303" "1" "00002" "00002" "2020-12-28 15:20:05" "" "" "PCR" "DNA" "0000000319" "00000304" "1" "00002" "00002" "2020-12-28 15:30:16" "" "" "PCR" "DNA" "0000000320" "00000305" "1" "00002" "00002" "2020-12-28 15:32:50" "" "" "PCR" "DNA" "0000000321" "00000306" "1" "00002" "00002" "2020-12-28 15:44:42" "" "" "PCRdig" "DNA" "0000000322" "00000307" "1" "00002" "00002" "2020-12-28 16:01:34" "" "" "PCRdig" "DNA" "0000000323" "00000308" "1" "00002" "00002" "2020-12-28 16:05:37" "" "" "PCRdig" "DNA" "0000000460" "00000429" "1" "00004" "00004" "2021-02-18 10:56:14" "" "" "PCRdig" "DNA" "0000000506" "00000462" "1" "00004" "00004" "2021-02-28 10:12:32" "" "" "?" "DNA" "0000000513" "00000467" "1" "00004" "00004" "2021-03-01 17:15:08" "" "" "?" "DNA" "0000000514" "00000468" "1" "00004" "00004" "2021-03-02 08:56:07" "" "" "?" "DNA" "0000000515" "00000469" "1" "00004" "00004" "2021-03-02 08:58:27" "" "" "?" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000000315" "LEPR" "0000000316" "LEPR" "0000000317" "LEPR" "0000000318" "LEPR" "0000000319" "LEPR" "0000000320" "LEPR" "0000000321" "LEPR" "0000000322" "LEPR" "0000000323" "LEPR" "0000000460" "LEPR" "0000000506" "LEPR" "0000000513" "LEPR" "0000000514" "LEPR" "0000000515" "LEPR" ## 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 = 24 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001445" "0" "10" "1" "65570758" "65570758" "subst" "0" "00002" "LEPR_000001" "g.65570758A>G" "63/148" "{PMID:Sook-Ha Fan et al. (2014):24947733}, {dbSNP:rs1137100}, {OMIM:601007:0004}, {ClinVar:8523}" "K109R" "" "rs1137100" "0000001446" "0" "10" "1" "65592830" "65592830" "subst" "0" "00002" "LEPR_000002" "g.65592830A>G" "49/148" "{PMID:Sook-Ha Fan et al. (2014):24947733}, {dbSNP:rs1137101}, {OMIM:601007:0001}, {ClinVar:8521}" "Q223R" "" "rs1137101" "0000001447" "0" "10" "1" "65570758" "65570758" "subst" "0" "00002" "LEPR_000001" "g.65570758A>G" "60/177" "{PMID:Sook-Ha Fan et al. (2014):24947733}, {dbSNP:rs1137100}, {OMIM:601007:0004}, {ClinVar:8523}" "K109R" "" "rs1137100" "0000001448" "0" "10" "1" "65592830" "65592830" "subst" "0" "00002" "LEPR_000002" "g.65592830A>G" "40/177" "{PMID:Sook-Ha Fan et al. (2014):24947733}, {dbSNP:rs1137101}, {OMIM:601007:0001}, {ClinVar:8521}" "Q223R" "" "rs1137101" "0000001449" "0" "10" "1" "65570758" "65570758" "subst" "0" "00002" "LEPR_000001" "g.65570758A>G" "28/83" "{PMID:Sook-Ha Fan et al. (2014):24947733}, {dbSNP:rs1137100}, {OMIM:601007:0004}, {ClinVar:8523}" "K109R" "" "rs1137100" "0000001450" "0" "10" "1" "65592830" "65592830" "subst" "0" "00002" "LEPR_000002" "g.65592830A>G" "28/83" "{PMID:Sook-Ha Fan et al. (2014):24947733}, {dbSNP:rs1137101}, {OMIM:601007:0001}, {ClinVar:8521}" "Q223R" "" "rs1137101" "0000001451" "0" "10" "1" "65592830" "65592830" "subst" "0" "00002" "LEPR_000002" "g.65592830A>G" "98/241" "{PMID:Zoe Yi Ng et al. (2014):24628746}, {dbSNP:rs1137101}, {OMIM:601007:0001}, {ClinVar:8521}" "Q223R" "" "rs1137101" "0000001452" "0" "10" "1" "65592830" "65592830" "subst" "0" "00002" "LEPR_000002" "g.65592830A>G" "51/219" "{PMID:Zoe Yi Ng et al. (2014):24628746}, {dbSNP:rs1137101}, {OMIM:601007:0001}, {ClinVar:8521}" "Q223R" "" "rs1137101" "0000001453" "0" "10" "1" "65592830" "65592830" "subst" "0" "00002" "LEPR_000002" "g.65592830A>G" "82/153" "{PMID:Zoe Yi Ng et al. (2014):24628746}, {dbSNP:rs1137101}, {OMIM:601007:0001}, {ClinVar:8521}" "Q223R" "" "rs1137101" "0000001454" "3" "90" "1" "65592830" "65592830" "subst" "0" "00002" "LEPR_000002" "g.65592830A>G" "86/145" "{PMID:Ali Etemad et al. (2013):24051404}, {dbSNP:rs1137101}" "" "" "rs1137101" "0000001455" "0" "90" "1" "65592830" "65592830" "subst" "0" "00002" "LEPR_000002" "g.65592830A>G" "17/145" "{PMID:Ali Etemad et al. (2013):24051404}, {dbSNP:rs1137101}" "" "" "rs1137101" "0000001456" "3" "90" "1" "65592830" "65592830" "subst" "0" "00002" "LEPR_000002" "g.65592830A>G" "36/49" "{PMID:Ali Etemad et al. (2013):24051404}, {dbSNP:rs1137101}" "" "" "rs1137101" "0000001457" "3" "90" "1" "65592830" "65592830" "subst" "0" "00002" "LEPR_000002" "g.65592830A>G" "46/90" "{PMID:Ali Etemad et al. (2013):24051404}, {dbSNP:rs1137101}, {OMIM:[1]:[2]}" "" "" "rs1137101" "0000001458" "0" "90" "1" "65592830" "65592830" "subst" "0" "00002" "LEPR_000002" "g.65592830A>G" "7/90" "{PMID:Ali Etemad et al. (2013):24051404}, {dbSNP:rs1137101}, {OMIM:[1]:[2]}" "" "" "rs1137101" "0000002023" "0" "90" "1" "65570758" "65570758" "subst" "0" "00004" "LEPR_000001" "g.65570758A>G" "" "" "K109R" "" "rs1137100" "0000002024" "0" "90" "1" "65592830" "65592830" "subst" "0" "00004" "LEPR_000002" "g.65592830A>G" "" "{ClinVar:8521}" "Q223R" "" "rs1137101" "0000002025" "0" "90" "1" "65610269" "65610269" "subst" "0" "00004" "LEPR_000003" "g.65610269G>T" "" "{ClinVar:393446}" "K656N" "" "rs1805094" "0000002217" "0" "90" "1" "65592830" "65592830" "subst" "0" "00004" "LEPR_000002" "g.65592830A>G" "" "{PMID:Siti Norsyuhada Roffeei et al.(2014):24624915}" "" "" "rs1137101" "0000002232" "0" "90" "1" "65570758" "65570758" "subst" "0" "00004" "LEPR_000001" "g.65570758A>G" "59/144" "{PMID:Shamsul Mohd Zain et al.(2013):23278404}" "" "" "rs1137100" "0000002233" "0" "90" "1" "65570758" "65570758" "subst" "0" "00004" "LEPR_000001" "g.65570758A>G" "54/144" "{PMID:Shamsul Mohd Zain et al.(2013):23278404}" "" "" "rs1137100" "0000002234" "0" "90" "1" "65570758" "65570758" "subst" "0" "00004" "LEPR_000001" "g.65570758A>G" "31/144" "{PMID:Shamsul Mohd Zain et al.(2013):23278404}" "" "" "rs1137100" "0000002235" "0" "90" "1" "65592830" "65592830" "subst" "0" "00004" "LEPR_000002" "g.65592830A>G" "59/144" "{PMID:Shamsul Mohd Zain et al.(2013):23278404}" "" "" "rs1137101" "0000002236" "0" "90" "1" "65592830" "65592830" "subst" "0" "00004" "LEPR_000002" "g.65592830A>G" "54/144" "{PMID:Shamsul Mohd Zain et al.(2013):23278404}" "" "" "rs1137101" "0000002237" "0" "90" "1" "65592830" "65592830" "subst" "0" "00004" "LEPR_000002" "g.65592830A>G" "31/144" "{PMID:Shamsul Mohd Zain et al.(2013):23278404}" "" "" "rs1137101" ## 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 LEPR ## Count = 24 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001445" "00000083" "10" "326" "0" "326" "0" "c.326A>G" "4" "p.(Lys109Arg)" "r.(?)" "" "" "{ClinVar:8523}" "0000001446" "00000083" "10" "668" "0" "668" "0" "c.668A>G" "6" "p.(Gln223Arg)" "r.(?)" "" "" "{ClinVar:8521}" "0000001447" "00000083" "10" "326" "0" "326" "0" "c.326A>G" "4" "p.(Lys109Arg)" "r.(?)" "" "" "{ClinVar:8523}" "0000001448" "00000083" "10" "668" "0" "668" "0" "c.668A>G" "6" "p.(Gln223Arg)" "r.(?)" "" "" "{ClinVar:8521}" "0000001449" "00000083" "10" "326" "0" "326" "0" "c.326A>G" "4" "p.(Lys109Arg)" "r.(?)" "" "" "{ClinVar:8523}" "0000001450" "00000083" "10" "668" "0" "668" "0" "c.668A>G" "6" "p.(Gln223Arg)" "r.(?)" "" "" "{ClinVar:8521}" "0000001451" "00000083" "10" "668" "0" "668" "0" "c.668A>G" "" "p.(Gln223Arg)" "r.(?)" "" "" "{ClinVar:8521}" "0000001452" "00000083" "10" "668" "0" "668" "0" "c.668A>G" "" "p.(Gln223Arg)" "r.(?)" "" "" "{ClinVar:8521}" "0000001453" "00000083" "10" "668" "0" "668" "0" "c.668A>G" "" "p.(Gln223Arg)" "r.(?)" "" "" "{ClinVar:8521}" "0000001454" "00000083" "90" "668" "0" "668" "0" "c.668A>G" "" "p.(Gln223Arg)" "r.(?)" "" "" "" "0000001455" "00000083" "90" "668" "0" "668" "0" "c.668A>G" "" "p.(Gln223Arg)" "r.(?)" "" "" "" "0000001456" "00000083" "90" "668" "0" "668" "0" "c.668A>G" "" "p.(Gln223Arg)" "r.(?)" "" "" "" "0000001457" "00000083" "90" "668" "0" "668" "0" "c.668A>G" "" "p.(Gln223Arg)" "r.(?)" "" "" "" "0000001458" "00000083" "90" "668" "0" "668" "0" "c.668A>G" "" "p.(Gln223Arg)" "r.(?)" "" "" "" "0000002023" "00000083" "90" "326" "0" "326" "0" "c.326A>G" "4" "p.(Lys109Arg)" "r.(?)" "" "" "Benign" "0000002024" "00000083" "90" "668" "0" "668" "0" "c.668A>G" "6" "p.(Gln223Arg)" "r.(?)" "" "" "Benign" "0000002025" "00000083" "90" "1968" "0" "1968" "0" "c.1968G>T" "14" "p.(Lys656Asn)" "r.(?)" "" "" "Uncertain significance" "0000002217" "00000083" "90" "668" "0" "668" "0" "c.668A>G" "" "p.(Gln223Arg)" "r.(?)" "" "" "Benign" "0000002232" "00000083" "90" "326" "0" "326" "0" "c.326A>G" "" "p.(Lys109Arg)" "r.(?)" "" "" "Benign" "0000002233" "00000083" "90" "326" "0" "326" "0" "c.326A>G" "" "p.(Lys109Arg)" "r.(?)" "" "" "Benign" "0000002234" "00000083" "90" "326" "0" "326" "0" "c.326A>G" "" "p.(Lys109Arg)" "r.(?)" "" "" "Benign" "0000002235" "00000083" "90" "668" "0" "668" "0" "c.668A>G" "" "p.(Gln223Arg)" "r.(?)" "" "" "Benign" "0000002236" "00000083" "90" "668" "0" "668" "0" "c.668A>G" "" "p.(Gln223Arg)" "r.(?)" "" "" "Benign" "0000002237" "00000083" "90" "668" "0" "668" "0" "c.668A>G" "" "p.(Gln223Arg)" "r.(?)" "" "" "Benign" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000000315" "0000001445" "0000000315" "0000001446" "0000000316" "0000001447" "0000000316" "0000001448" "0000000317" "0000001449" "0000000317" "0000001450" "0000000318" "0000001451" "0000000319" "0000001452" "0000000320" "0000001453" "0000000321" "0000001454" "0000000321" "0000001455" "0000000322" "0000001456" "0000000323" "0000001457" "0000000323" "0000001458" "0000000460" "0000002023" "0000000460" "0000002024" "0000000460" "0000002025" "0000000506" "0000002217" "0000000513" "0000002232" "0000000513" "0000002235" "0000000514" "0000002233" "0000000514" "0000002236" "0000000515" "0000002234" "0000000515" "0000002237"