### LOVD-version 3000-210 ### 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "LEPR" "leptin receptor" "1" "p31" "unknown" "NC_000001.10" "UD_132118444127" "" "" "" "1" "1" "6554" "3953" "601007" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-26 22:07:39" "" "" "00000" "2013-11-26 22:07:39" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003129" "LEPR" "transcript variant 1" "001" "NM_002303.5" "" "NP_002294.2" "" "" "" "-185" "3976" "3498" "65886335" "66103176" "00000" "2013-11-26 22:07:39" "" "" "" "1" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00114" "601665" "Obesity, autosomal dominant, 601665 (3)" "601665" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LEPR" "00114" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## 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 = 7 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000000036" "0" "77" "1" "66102080" "66102080" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-06-16 08:46:29" "LEPR_000001" "g.66102080C>G" "" "" "" "rs193922650" "subst" "0" "; clinVar; Ensembl;" "2.940" "" "" "" "" "MSCV_0000036" "" "0000000037" "0" "77" "1" "66102080" "66102080" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-05-21 23:57:00" "LEPR_000002" "g.66102080C>T" "" "" "" "rs193922650" "subst" "0" ";" "2.940" "" "" "" "" "MSCV_0000037" "" "0000000038" "0" "33" "1" "66102617" "66102617" "subst" "35" "0.00376749" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-14 02:02:59" "LEPR_000003" "g.66102617A>G" "" "" "" "rs61781316" "subst" "0" "; clinVar;" "-8.340" "" "" "" "" "MSCV_0000038" "" "0000000039" "0" "33" "1" "66102623" "66102623" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-13 14:25:49" "LEPR_000004" "g.66102623C>T" "" "" "" "rs193922651" "subst" "0" "; clinVar;" "3.500" "" "" "" "" "MSCV_0000039" "" "0000015335" "0" "77" "1" "66102080" "66102080" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 15:27:22" "LEPR_000001" "g.66102080C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000036" "" "0000015336" "0" "77" "1" "66102617" "66102617" "subst" "35" "0.00376749" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 18:04:07" "LEPR_000003" "g.66102617A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000038" "" "0000015337" "0" "33" "1" "66102623" "66102623" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-15 02:08:24" "LEPR_000004" "g.66102623C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000039" "" ## 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. ## Count = 7 "{{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/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000000036" "00003129" "77" "2880" "0" "2880" "0" "c.2880C>G" "20/20" "p.(=)" "r.(=)" "benign(0.15)" "" "missense_variant" "" "" "tolerated(0.3)" "0000000037" "00003129" "00" "2880" "0" "2880" "0" "c.2880C>T" "20/20" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000038" "00003129" "33" "3417" "0" "3417" "0" "c.3417A>G" "20/20" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000039" "00003129" "33" "3423" "0" "3423" "0" "c.3423C>T" "20/20" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000015335" "00003129" "00" "2880" "0" "2880" "0" "c.2880C>G" "" "p.(Asn960Lys)" "r.(?)" "" "" "" "" "" "-" "0000015336" "00003129" "00" "3417" "0" "3417" "0" "c.3417A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015337" "00003129" "00" "3423" "0" "3423" "0" "c.3423C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0