### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MRPS22) # 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}}" "MRPS22" "mitochondrial ribosomal protein S22" "3" "q23" "unknown" "NC_000003.11" "UD_132118704259" "" "" "" "1" "1" "14508" "56945" "605810" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "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 = 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}}" "00000176" "MRPS22" "mitochondrial ribosomal protein S22" "001" "NM_020191.2" "" "NP_064576.1" "" "" "" "-8" "1115" "1083" "139062861" "139075888" "00001" "2013-11-07 13:54:59" "" "" "" "3" ## 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}}" "00099" "COXPD5" "Combined oxidative phosphorylation deficiency 5, 611719 (3)" "611719" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MRPS22" "00099" ## 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 = 18 "{{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}}" "0000000958" "0" "99" "3" "139069025" "139069025" "subst" "35" "0.000230663" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 14:37:44" "MRPS22_000002" "g.139069025G>A" "" "{PMID:17873122:17873122}" "" "rs119478059" "subst" "0" "; clinVar; Ensembl;" "4.600" "" "" "" "" "MSCV_0000958" "" "0000000959" "0" "99" "3" "139069160" "139069160" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:02:44" "MRPS22_000001" "g.139069160T>C" "" "{PMID:21189481:21189481}" "" "rs387906924" "subst" "0" "; clinVar;" "3.880" "" "" "" "" "MSCV_0000959" "" "0000020504" "0" "99" "3" "139069025" "139069025" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:03:23" "MRPS22_000002" "g.139069025G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000958" "" "0000020505" "0" "99" "3" "139069160" "139069160" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:58:54" "MRPS22_000001" "g.139069160T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000959" "" "0000026108" "0" "00" "3" "139062958" "139062958" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-17 06:32:33" "MRPS22_000016" "g.139062958G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026109" "0" "00" "3" "139063051" "139063051" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:05:41" "MRPS22_000007" "g.139063051T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026110" "0" "00" "3" "139065830" "139065830" "subst" "35" "0.0230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:05:50" "MRPS22_000008" "g.139065830A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026111" "0" "00" "3" "139065874" "139065874" "subst" "35" "0.000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:05:59" "MRPS22_000009" "g.139065874A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026112" "0" "00" "3" "139066988" "139066988" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:06:32" "MRPS22_000010" "g.139066988T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026113" "0" "00" "3" "139069024" "139069024" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:06:41" "MRPS22_000011" "g.139069024C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026114" "0" "00" "3" "139069133" "139069133" "subst" "35" "0.00153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:06:48" "MRPS22_000012" "g.139069133C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026115" "0" "00" "3" "139069180" "139069180" "del" "35" "0.0000798722" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:06:56" "MRPS22_000013" "g.139069180del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026116" "0" "00" "3" "139069822" "139069822" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:07:01" "MRPS22_000014" "g.139069822A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026117" "0" "00" "3" "139069902" "139069902" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:07:06" "MRPS22_000015" "g.139069902G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026118" "0" "00" "3" "139071555" "139071555" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:03:05" "MRPS22_000003" "g.139071555T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026119" "0" "00" "3" "139074639" "139074639" "del" "35" "0.000479233" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:03:13" "MRPS22_000004" "g.139074639del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026120" "0" "00" "3" "139075804" "139075805" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:03:20" "MRPS22_000005" "g.139075804_139075805insAACA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026121" "0" "00" "3" "139075818" "139075818" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-10 00:36:48" "MRPS22_000006" "g.139075818T>A" "" "" "" "" "" "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 = 18 "{{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}}" "0000000958" "00000176" "99" "509" "0" "509" "0" "c.509G>A" "6/10" "p.(Arg170His)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000959" "00000176" "99" "644" "0" "644" "0" "c.644T>C" "6/10" "p.(Leu215Pro)" "r.(?)" "probably_damaging(0.986)" "" "missense_variant" "" "" "deleterious(0)" "0000020504" "00000176" "00" "509" "0" "509" "0" "c.509G>A" "" "p.(Arg170His)" "r.(?)" "" "" "" "" "" "-" "0000020505" "00000176" "00" "644" "0" "644" "0" "c.644T>C" "" "p.(Leu215Pro)" "r.(?)" "" "" "" "" "" "-" "0000026108" "00000176" "00" "90" "0" "90" "0" "c.90G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026109" "00000176" "00" "172" "11" "172" "11" "c.172+11T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026110" "00000176" "00" "283" "0" "283" "0" "c.283A>C" "" "p.(Ile95Leu)" "r.(?)" "" "" "" "" "" "-" "0000026111" "00000176" "00" "327" "0" "327" "0" "c.327A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026112" "00000176" "00" "340" "-14" "340" "-14" "c.340-14T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026113" "00000176" "00" "508" "0" "508" "0" "c.508C>T" "" "p.(Arg170Cys)" "r.(?)" "" "" "" "" "" "-" "0000026114" "00000176" "00" "617" "0" "617" "0" "c.617C>T" "" "p.(Thr206Ile)" "r.(?)" "" "" "" "" "" "-" "0000026115" "00000176" "00" "648" "16" "648" "16" "c.648+16del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026116" "00000176" "00" "652" "0" "652" "0" "c.652A>G" "" "p.(Met218Val)" "r.(?)" "" "" "" "" "" "-" "0000026117" "00000176" "00" "732" "0" "732" "0" "c.732G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026118" "00000176" "00" "799" "0" "799" "0" "c.799T>C" "" "p.(Tyr267His)" "r.(?)" "" "" "" "" "" "-" "0000026119" "00000176" "00" "987" "7" "987" "7" "c.987+7del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026120" "00000176" "00" "1031" "0" "1032" "0" "c.1031_1032insAACA" "" "p.(Leu346Asnfs*21)" "r.(?)" "" "" "" "" "" "-" "0000026121" "00000176" "00" "1045" "0" "1045" "0" "c.1045T>A" "" "p.(Tyr349Asn)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0