### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LYRM4) # 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}}" "LYRM4" "LYR motif containing 4" "6" "p25.1" "unknown" "NC_000006.11" "UD_138306299763" "" "" "" "1" "1" "21365" "57128" "613311" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 15:44:54" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00002182" "LYRM4" "transcript variant X1" "001" "XM_005249237.1" "" "XP_005249294.1" "" "" "" "-9" "653" "294" "5260975" "5047395" "00001" "2013-11-15 15:51:16" "" "" "" "6" "00002183" "LYRM4" "transcript variant 1" "002" "NM_020408.4" "" "NP_065141.3" "" "" "" "-206" "1280" "276" "5261172" "5108653" "00001" "2013-11-15 15:51:16" "" "" "" "6" "00002184" "LYRM4" "transcript variant 3" "003" "NM_001164841.1" "" "NP_001158313.1" "" "" "" "-206" "1405" "291" "5261172" "5108653" "00001" "2013-11-15 15:51:16" "" "" "" "6" "00002185" "LYRM4" "transcript variant X3" "004" "XM_005249239.1" "" "XP_005249296.1" "" "" "" "-9" "932" "213" "5260975" "5136408" "00001" "2013-11-15 15:51:16" "" "" "" "6" "00002186" "LYRM4" "transcript variant X2" "005" "XM_005249238.1" "" "XP_005249295.1" "" "" "" "-9" "332" "291" "5260975" "5144372" "00001" "2013-11-15 15:51:16" "" "" "" "6" "00002187" "LYRM4" "transcript variant 2" "006" "NM_001164840.1" "" "NP_001158312.1" "" "" "" "-206" "588" "393" "5261172" "5186834" "00001" "2013-11-15 15:51:16" "" "" "" "6" ## 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}}" "00500" "615595" "?Combined oxidative phosphorylation deficiency 19, 615595 (3)" "615595" "" "" "" "00001" "2018-06-25 16:00:00" "00001" "2018-06-25 16:00:00" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LYRM4" "00500" ## 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 = 2 "{{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}}" "0000021633" "0" "99" "6" "5216855" "5216855" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-12 04:20:54" "LYRM4_000001" "g.5216855C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021633" "" "0000026400" "0" "00" "6" "5260960" "5260960" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-01-10 11:31:57" "LYRM4_000002" "g.5260960C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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 = 12 "{{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}}" "0000021633" "00002182" "00" "203" "0" "203" "0" "c.203G>T" "" "p.(Arg68Leu)" "r.(?)" "" "" "" "" "" "-" "0000021633" "00002183" "00" "203" "0" "203" "0" "c.203G>T" "" "p.(Arg68Leu)" "r.(?)" "" "" "" "" "" "-" "0000021633" "00002184" "00" "203" "0" "203" "0" "c.203G>T" "" "p.(Arg68Leu)" "r.(?)" "" "" "" "" "" "-" "0000021633" "00002185" "00" "203" "0" "203" "0" "c.203G>T" "" "p.(Arg68Leu)" "r.(?)" "" "" "" "" "" "-" "0000021633" "00002186" "00" "203" "0" "203" "0" "c.203G>T" "" "p.(Arg68Leu)" "r.(?)" "" "" "" "" "" "-" "0000021633" "00002187" "00" "203" "0" "203" "0" "c.203G>T" "" "p.(Arg68Leu)" "r.(?)" "" "" "" "" "" "-" "0000026400" "00002182" "00" "7" "0" "7" "0" "c.7G>A" "" "p.(Ala3Thr)" "r.(?)" "" "" "" "" "" "-" "0000026400" "00002183" "00" "7" "0" "7" "0" "c.7G>A" "" "p.(Ala3Thr)" "r.(?)" "" "" "" "" "" "-" "0000026400" "00002184" "00" "7" "0" "7" "0" "c.7G>A" "" "p.(Ala3Thr)" "r.(?)" "" "" "" "" "" "-" "0000026400" "00002185" "00" "7" "0" "7" "0" "c.7G>A" "" "p.(Ala3Thr)" "r.(?)" "" "" "" "" "" "-" "0000026400" "00002186" "00" "7" "0" "7" "0" "c.7G>A" "" "p.(Ala3Thr)" "r.(?)" "" "" "" "" "" "-" "0000026400" "00002187" "00" "7" "0" "7" "0" "c.7G>A" "" "p.(Ala3Thr)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0