### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PMPCB) # 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}}" "PMPCB" "peptidase (mitochondrial processing) beta" "7" "q22.1" "unknown" "NC_000007.13" "UD_138455377025" "" "" "" "1" "1" "9119" "9512" "603131" "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 16:06:56" "" "" "" "" "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 = 4 "{{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}}" "00002651" "PMPCB" "peptidase (mitochondrial processing) beta" "001" "NM_004279.2" "" "NP_004270.2" "" "" "" "-34" "3885" "1470" "102937873" "102955133" "00001" "2013-11-15 16:16:17" "" "" "" "7" "00002652" "PMPCB" "transcript variant X1" "002" "XM_005250717.1" "" "XP_005250774.1" "" "" "" "-32" "2377" "1527" "102937875" "102970349" "00001" "2013-11-15 16:16:17" "" "" "" "7" "00002653" "PMPCB" "transcript variant X3" "003" "XR_242267.1" "" "" "" "" "" "1" "1530" "1530" "102937875" "102952859" "00001" "2013-11-15 16:16:17" "" "" "" "7" "00002654" "PMPCB" "transcript variant X2" "004" "XM_005250718.1" "" "XP_005250775.1" "" "" "" "-739" "2062" "1212" "102937878" "102970349" "00001" "2013-11-15 16:16:17" "" "" "" "7" ## 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}}" "00568" "617954" "MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6" "617954" "" "" "" "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}}" "PMPCB" "00568" ## 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 = 5 "{{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}}" "0000026624" "0" "00" "7" "102944354" "102944354" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:57:45" "PMPCB_000001" "g.102944354C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026625" "0" "00" "7" "102944355" "102944355" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:58:01" "PMPCB_000002" "g.102944355G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026626" "0" "00" "7" "102944361" "102944361" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:58:17" "PMPCB_000003" "g.102944361T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026627" "0" "00" "7" "102944432" "102944432" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:58:33" "PMPCB_000004" "g.102944432G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026628" "0" "00" "7" "102952279" "102952279" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:59:04" "PMPCB_000005" "g.102952279T>C" "" "" "" "" "" "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 = 20 "{{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}}" "0000026624" "00002651" "00" "523" "0" "523" "0" "c.523C>T" "" "p.(Arg175Cys)" "r.(?)" "" "" "" "" "" "-" "0000026624" "00002652" "00" "523" "0" "523" "0" "c.523C>T" "" "p.(Arg175Cys)" "r.(?)" "" "" "" "" "" "-" "0000026624" "00002653" "00" "555" "0" "555" "0" "n.555C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026624" "00002654" "00" "208" "0" "208" "0" "c.208C>T" "" "p.(Arg70Cys)" "r.(?)" "" "" "" "" "" "-" "0000026625" "00002651" "00" "524" "0" "524" "0" "c.524G>A" "" "p.(Arg175His)" "r.(?)" "" "" "" "" "" "-" "0000026625" "00002652" "00" "524" "0" "524" "0" "c.524G>A" "" "p.(Arg175His)" "r.(?)" "" "" "" "" "" "-" "0000026625" "00002653" "00" "556" "0" "556" "0" "n.556G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026625" "00002654" "00" "209" "0" "209" "0" "c.209G>A" "" "p.(Arg70His)" "r.(?)" "" "" "" "" "" "-" "0000026626" "00002651" "00" "530" "0" "530" "0" "c.530T>G" "" "p.(Val177Gly)" "r.(?)" "" "" "" "" "" "-" "0000026626" "00002652" "00" "530" "0" "530" "0" "c.530T>G" "" "p.(Val177Gly)" "r.(?)" "" "" "" "" "" "-" "0000026626" "00002653" "00" "562" "0" "562" "0" "n.562T>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026626" "00002654" "00" "215" "0" "215" "0" "c.215T>G" "" "p.(Val72Gly)" "r.(?)" "" "" "" "" "" "-" "0000026627" "00002651" "00" "601" "0" "601" "0" "c.601G>C" "" "p.(Ala201Pro)" "r.(?)" "" "" "" "" "" "-" "0000026627" "00002652" "00" "601" "0" "601" "0" "c.601G>C" "" "p.(Ala201Pro)" "r.(?)" "" "" "" "" "" "-" "0000026627" "00002653" "00" "633" "0" "633" "0" "n.633G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026627" "00002654" "00" "286" "0" "286" "0" "c.286G>C" "" "p.(Ala96Pro)" "r.(?)" "" "" "" "" "" "-" "0000026628" "00002651" "00" "1265" "0" "1265" "0" "c.1265T>C" "" "p.(Ile422Thr)" "r.(?)" "" "" "" "" "" "-" "0000026628" "00002652" "00" "1265" "0" "1265" "0" "c.1265T>C" "" "p.(Ile422Thr)" "r.(?)" "" "" "" "" "" "-" "0000026628" "00002653" "00" "1184" "0" "1184" "0" "n.1184T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026628" "00002654" "00" "950" "0" "950" "0" "c.950T>C" "" "p.(Ile317Thr)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0