### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TPM1) # 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}}" "TPM1" "tropomyosin 1 (alpha)" "15" "q22.1" "unknown" "NG_007557.1" "UD_139313972710" "" "" "" "1" "1" "12010" "7168" "191010" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 19:00:04" "" "" "00000" "2014-04-18 19:00:04" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003254" "TPM1" "transcript variant 3" "004" "NM_001018004.1" "" "NP_001018004.1" "" "" "" "-191" "1598" "855" "63334838" "63364114" "00000" "2014-04-18 19:00:04" "" "" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 14 "{{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}}" "0000002324" "0" "77" "15" "63335051" "63335051" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-08-27 04:22:37" "TPM1_000014" "g.63335051T>G" "" "{PMID:11106625:11106625}" "" "rs397516364" "subst" "0" "; clinvar;" "4.500" "" "" "" "" "MSCV_0002324" "" "0000002325" "0" "99" "15" "63336229" "63336229" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:42:51" "TPM1_000001" "g.63336229G>A" "" "{PMID:9400381:9400381};{PMID:11273725:11273725}" "" "rs104894501" "subst" "0" "; clinvar;" "5.670" "" "" "" "" "MSCV_0002325" "" "0000002326" "0" "99" "15" "63336229" "63336229" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-06-14 07:50:50" "TPM1_000002" "g.63336229G>T" "" "{PMID:9400381:9400381};{PMID:11273725:11273725}" "" "rs104894501" "subst" "0" "; clinvar;" "5.670" "" "" "" "" "MSCV_0002326" "" "0000002327" "0" "99" "15" "63336271" "63336271" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:19" "TPM1_000003" "g.63336271G>A" "" "{PMID:11273725:11273725}" "" "rs104894505" "subst" "0" "; clinvar;" "5.820" "" "" "" "" "MSCV_0002327" "" "0000002328" "0" "77" "15" "63336274" "63336274" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:19" "TPM1_000004" "g.63336274G>A" "" "" "" "rs397516363" "subst" "0" "; clinvar;" "5.820" "" "" "" "" "MSCV_0002328" "" "0000002329" "0" "77" "15" "63349218" "63349218" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:20" "TPM1_000005" "g.63349218T>C" "" "{PMID:21483645:21483645};{PMID:20215591:20215591}" "" "rs199476310" "subst" "0" "; clinvar;" "5.720" "" "" "" "" "MSCV_0002329" "" "0000002330" "0" "77" "15" "63349280" "63349280" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:21" "TPM1_000006" "g.63349280C>G" "" "" "" "rs397516369" "subst" "0" "; clinvar;" "3.510" "" "" "" "" "MSCV_0002330" "" "0000002331" "0" "77" "15" "63349284" "63349284" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:42:51" "TPM1_000007" "g.63349284A>G" "" "{PMID:21310275:21310275}" "" "rs397516370" "subst" "0" "; clinvar;" "5.720" "" "" "" "" "MSCV_0002331" "" "0000002332" "0" "77" "15" "63351810" "63351810" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:22" "TPM1_000008" "g.63351810G>C" "" "" "" "rs397516371" "subst" "0" "; clinvar;" "5.040" "" "" "" "" "MSCV_0002332" "" "0000002333" "0" "77" "15" "63351862" "63351862" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:23" "TPM1_000009" "g.63351862G>A" "" "" "" "rs397516373" "subst" "0" "; clinvar;" "5.040" "" "" "" "" "MSCV_0002333" "" "0000002334" "0" "77" "15" "63351866" "63351866" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-03-28 07:43:56" "TPM1_000010" "g.63351866G>A" "" "{PMID:20530761:20530761}" "" "rs199476311" "subst" "0" "; clinvar;" "5.820" "" "" "" "" "MSCV_0002334" "" "0000002335" "0" "77" "15" "63353980" "63353980" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-08-25 19:52:57" "TPM1_000011" "g.63353980C>G" "" "" "" "rs397516487" "subst" "0" "; clinvar;" "6.170" "" "" "" "" "MSCV_0002335" "" "0000002336" "0" "99" "15" "63354462" "63354462" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:25" "TPM1_000012" "g.63354462G>A" "" "{PMID:20117437:20117437}" "" "rs199476317" "subst" "0" "; clinvar;" "5.840" "" "" "" "" "MSCV_0002336" "" "0000002337" "0" "77" "15" "63354797" "63354797" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:26" "TPM1_000013" "g.63354797C>T" "" "{PMID:24691700:24691700}" "" "rs397516387" "subst" "0" "; clinvar;" "5.150" "" "" "" "" "MSCV_0002337" "" ## 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 = 14 "{{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}}" "0000002324" "00003254" "77" "23" "0" "23" "0" "c.23T>G" "1/9" "p.(Met8Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002325" "00003254" "99" "118" "0" "118" "0" "c.118G>A" "2/9" "p.(Glu40Lys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002326" "00003254" "99" "118" "0" "118" "0" "c.118G>T" "2/9" "p.(Glu40*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002327" "00003254" "99" "160" "0" "160" "0" "c.160G>A" "2/9" "p.(Glu54Lys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002328" "00003254" "77" "163" "0" "163" "0" "c.163G>A" "2/9" "p.(Asp55Asn)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002329" "00003254" "77" "275" "0" "275" "0" "c.275T>C" "3/9" "p.(Ile92Thr)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002330" "00003254" "77" "337" "0" "337" "0" "c.337C>G" "3/9" "p.(Leu113Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002331" "00003254" "77" "341" "0" "341" "0" "c.341A>G" "3/9" "p.(Glu114Gly)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002332" "00003254" "77" "423" "0" "423" "0" "c.423G>C" "4/9" "p.(Met141Ile)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002333" "00003254" "77" "475" "0" "475" "0" "c.475G>A" "4/9" "p.(Asp159Asn)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002334" "00003254" "77" "479" "0" "479" "0" "c.479G>A" "4/9" "p.(Arg160His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002335" "00003254" "77" "632" "0" "632" "0" "c.632C>G" "6/9" "p.(Ala211Gly)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002336" "00003254" "99" "688" "0" "688" "0" "c.688G>A" "7/9" "p.(Asp230Asn)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002337" "00003254" "77" "725" "0" "725" "0" "c.725C>T" "8/9" "p.(Ala242Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0