### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GCGR) # 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}}" "GCGR" "glucagon receptor" "17" "q25" "unknown" "NG_016409.1" "UD_132118593998" "" "https://www.LOVD.nl/GCGR" "" "1" "4192" "2642" "138033" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-03-04 19:39:53" "00006" "2022-08-12 17:51:39" ## 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}}" "00008406" "GCGR" "glucagon receptor" "001" "NM_000160.3" "" "NP_000151.1" "" "" "" "-293" "1758" "1434" "79762010" "79771889" "" "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}}" "00151" "NIDDM" "diabetes mellitus, type II (NIDDM)" "AD" "125853" "" "" "" "00001" "2013-06-14 15:56:30" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05349" "CGD" "granulomatous disease, chronic" "" "" "" "" "" "00006" "2017-11-24 16:14:58" "00006" "2023-02-13 16:42:42" "06902" "MVAH" "Mahvash disease" "AR" "619290" "" "" "" "00006" "2022-03-04 19:38:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GCGR" "00151" "GCGR" "06902" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00291897" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00404598" "" "" "" "1" "" "00006" "{PMID:Li 2018:30294546}" "" "F" "" "China" "" "0" "" "" "" "patient" "00415357" "" "" "" "2" "" "00006" "{PMID:Arnadottir 2018:30361506}" "2 generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Iceland" "" "0" "" "" "" "FamPatA/B" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00291897" "00198" "00404598" "00198" "00415357" "05349" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00151, 00198, 05349, 06902 ## Count = 1 "{{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}}" "0000307153" "05349" "00415357" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "CGD5" "chronic granulomatous disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293065" "00291897" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000405838" "00404598" "1" "00006" "00006" "2022-03-04 19:42:28" "" "" "SEQ" "DNA" "" "" "0000416638" "00415357" "1" "00006" "00006" "2022-08-12 17:33:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000405838" "GCGR" ## 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}}" "{{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}}" "0000325771" "0" "50" "17" "79769543" "79769543" "subst" "0.000297485" "01804" "GCGR_000001" "g.79769543G>A" "" "" "" "GCGR(NM_000160.3):c.674G>A (p.(Arg225His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81811667G>A" "" "VUS" "" "0000325772" "0" "50" "17" "79771345" "79771345" "subst" "0.0114194" "01804" "GCGR_000002" "g.79771345C>T" "" "" "" "GCGR(NM_000160.3):c.1219-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81813469C>T" "" "VUS" "" "0000649754" "1" "90" "17" "79767715" "79767715" "subst" "0.0074678" "03575" "GCGR_000003" "g.79767715G>A" "17/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs1801483}" "Germline" "" "rs1801483" "0" "" "" "g.81809839G>A" "" "pathogenic" "" "0000658298" "0" "50" "17" "79769159" "79769159" "subst" "0" "01943" "GCGR_000004" "g.79769159C>T" "" "" "" "GCGR(NM_000160.4):c.455C>T (p.S152F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81811283C>T" "" "VUS" "" "0000692523" "0" "50" "17" "79768961" "79768961" "subst" "7.29373E-6" "01943" "GCGR_000005" "g.79768961G>A" "" "" "" "GCGR(NM_000160.4):c.347G>A (p.R116H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000841978" "3" "90" "17" "79770462" "79770464" "del" "0" "00006" "GCGR_000006" "g.79770462_79770464del" "" "{PMID:Li 2018:30294546}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000874819" "3" "50" "17" "79769153" "79769153" "subst" "0" "00006" "GCGR_000007" "g.79769153G>A" "" "{PMID:Arnadottir 2018:30361506}" "" "" "" "Germline" "" "" "0" "" "" "g.81811277G>A" "" "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 GCGR ## Count = 7 "{{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}}" "0000325771" "00008406" "50" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Arg225His)" "" "0000325772" "00008406" "50" "1219" "-5" "1219" "-5" "c.1219-5C>T" "r.spl?" "p.?" "" "0000649754" "00008406" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Ser)" "" "0000658298" "00008406" "50" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Ser152Phe)" "" "0000692523" "00008406" "50" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116His)" "" "0000841978" "00008406" "90" "958" "0" "960" "0" "c.958_960del" "r.(?)" "p.(Phe320del)" "" "0000874819" "00008406" "50" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Ser150Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000293065" "0000649754" "0000405838" "0000841978" "0000416638" "0000874819"