### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRPM7) # 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}}" "TRPM7" "transient receptor potential cation channel, subfamily M, member 7" "15" "q21" "unknown" "NG_021363.1" "UD_132118991224" "" "http://www.LOVD.nl/TRPM7" "" "1" "17994" "54822" "605692" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TRPM7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-19 21:42:00" "00000" "2026-04-28 14:25:14" ## 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}}" "00021912" "TRPM7" "transient receptor potential cation channel, subfamily M, member 7" "001" "NM_017672.4" "" "NP_060142.3" "" "" "" "-282" "10122" "5598" "50979012" "50849351" "" "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}}" "01175" "-" "sclerosis, lateral, amyotrophic/Parkinsonism/dementia complex 1" "AD" "105500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TRPM7" "01175" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00065128" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y02m" "0" "" "" "Europe" "SIDS050" "00407046" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "" "M" "" "China" "" "0" "" "" "" "TRPM7/SQSTM1#1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00065128" "02087" "00407046" "04255" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01175, 02087, 04255 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000051233" "02087" "00065128" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "0000299434" "04255" "00407046" "00006" "Familial, autosomal dominant" "17y" "site onset limb" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065279" "00065128" "1" "01602" "01602" "2016-05-19 13:31:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000408293" "00407046" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" ## 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 = 14 "{{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}}" "0000096951" "0" "50" "15" "50884348" "50884348" "subst" "0.000403778" "01602" "TRPM7_000001" "g.50884348G>A" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs199732064" "0" "" "" "g.50592151G>A" "" "VUS" "" "0000255294" "0" "30" "15" "50862357" "50862357" "subst" "0.00653886" "01943" "TRPM7_000002" "g.50862357A>G" "" "" "" "TRPM7(NM_017672.5):c.5309-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50570160A>G" "" "likely benign" "" "0000255295" "0" "30" "15" "50901942" "50901942" "del" "0" "01943" "TRPM7_000005" "g.50901942del" "" "" "" "TRPM7(NM_017672.5):c.2437-9delT, TRPM7(NM_017672.6):c.2437-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50609745del" "" "likely benign" "" "0000324106" "0" "30" "15" "50881789" "50881789" "subst" "0.000210642" "01804" "TRPM7_000003" "g.50881789G>A" "" "" "" "TRPM7(NM_017672.4):c.4389C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50589592G>A" "" "likely benign" "" "0000324107" "0" "30" "15" "50897117" "50897117" "subst" "0" "01804" "TRPM7_000004" "g.50897117A>C" "" "" "" "TRPM7(NM_017672.4):c.2934T>G (p.(Asp978Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50604920A>C" "" "likely benign" "" "0000806747" "0" "30" "15" "50929767" "50929767" "subst" "0.00342441" "02326" "TRPM7_000007" "g.50929767T>C" "" "" "" "TRPM7(NM_017672.6):c.684A>G (p.L228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000845170" "1" "90" "15" "50878630" "50878630" "subst" "0.0844902" "00006" "TRPM7_000008" "g.50878630G>A" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "T1482I" "" "Germline" "" "" "0" "" "" "g.50586433G>A" "" "pathogenic" "" "0000925991" "0" "10" "15" "50901942" "50901942" "del" "0" "02326" "TRPM7_000005" "g.50901942del" "" "" "" "TRPM7(NM_017672.5):c.2437-9delT, TRPM7(NM_017672.6):c.2437-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950388" "0" "50" "15" "50904947" "50904947" "subst" "8.12585E-6" "02325" "TRPM7_000009" "g.50904947C>T" "" "" "" "TRPM7(NM_017672.6):c.1850G>A (p.R617H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950389" "0" "30" "15" "50931680" "50931680" "subst" "1.62615E-5" "02327" "TRPM7_000010" "g.50931680T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950390" "0" "30" "15" "50940894" "50940894" "subst" "0" "02327" "TRPM7_000011" "g.50940894T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001512" "0" "50" "15" "50888486" "50888486" "subst" "0" "01804" "TRPM7_000012" "g.50888486T>C" "" "" "" "TRPM7(NM_017672.4):c.3256A>G (p.(Ile1086Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055121" "0" "30" "15" "50926763" "50926763" "subst" "0.00029153" "01804" "TRPM7_000013" "g.50926763G>A" "" "" "" "TRPM7(NM_017672.6):c.833-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001075652" "0" "50" "15" "50901831" "50901831" "subst" "1.6328E-5" "03779" "TRPM7_000014" "g.50901831G>A" "" "" "" "" "" "Unknown" "" "rs752733464" "0" "" "" "" "" "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 TRPM7 ## Count = 14 "{{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}}" "0000096951" "00021912" "50" "4084" "0" "4084" "0" "c.4084C>T" "r.(?)" "p.(Pro1362Ser)" "26" "0000255294" "00021912" "30" "5309" "-5" "5309" "-5" "c.5309-5T>C" "r.spl?" "p.?" "" "0000255295" "00021912" "30" "2437" "-9" "2437" "-9" "c.2437-9del" "r.(=)" "p.(=)" "" "0000324106" "00021912" "30" "4389" "0" "4389" "0" "c.4389C>T" "r.(?)" "p.(Ser1463=)" "" "0000324107" "00021912" "30" "2934" "0" "2934" "0" "c.2934T>G" "r.(?)" "p.(Asp978Glu)" "" "0000806747" "00021912" "30" "684" "0" "684" "0" "c.684A>G" "r.(?)" "p.(Leu228=)" "" "0000845170" "00021912" "90" "4445" "0" "4445" "0" "c.4445C>T" "r.(?)" "p.(Thr1482Ile)" "" "0000925991" "00021912" "10" "2437" "-9" "2437" "-9" "c.2437-9del" "r.(=)" "p.(=)" "" "0000950388" "00021912" "50" "1850" "0" "1850" "0" "c.1850G>A" "r.(?)" "p.(Arg617His)" "" "0000950389" "00021912" "30" "601" "0" "601" "0" "c.601A>G" "r.(?)" "p.(Thr201Ala)" "" "0000950390" "00021912" "30" "311" "0" "311" "0" "c.311A>G" "r.(?)" "p.(Tyr104Cys)" "" "0001001512" "00021912" "50" "3256" "0" "3256" "0" "c.3256A>G" "r.(?)" "p.(Ile1086Val)" "" "0001055121" "00021912" "30" "833" "-10" "833" "-10" "c.833-10C>T" "r.(=)" "p.(=)" "" "0001075652" "00021912" "50" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000065279" "0000096951" "0000408293" "0000845170"