### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNASEH1) # 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}}" "RNASEH1" "ribonuclease H1" "2" "p25" "unknown" "NC_000002.11" "UD_138455403103" "" "" "" "1" "1" "18466" "246243" "604123" "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 = 3 "{{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}}" "00002748" "RNASEH1" "transcript variant X2" "001" "XR_244873.1" "" "" "" "" "" "1" "1664" "1664" "3605957" "3592675" "00001" "2013-11-15 16:20:42" "" "" "" "2" "00002749" "RNASEH1" "transcript variant X1" "002" "XM_005263850.1" "" "XP_005263907.1" "" "" "" "-689" "1210" "510" "3605950" "3592675" "00001" "2013-11-15 16:20:42" "" "" "" "2" "00002750" "RNASEH1" "ribonuclease H1" "003" "NM_002936.3" "" "NP_002927.2" "" "" "" "-90" "1558" "861" "3605940" "3592678" "00001" "2013-11-15 16:20:42" "" "" "" "2" ## 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}}" "00534" "616479" "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3)" "616479" "" "" "" "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}}" "RNASEH1" "00534" ## 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 = 3 "{{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}}" "0000018897" "0" "99" "2" "3596658" "3596658" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:02:41" "RNASEH1_000001" "g.3596658G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018897" "" "0000018898" "0" "99" "2" "3598003" "3598003" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:02:44" "RNASEH1_000002" "g.3598003G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018898" "" "0000018899" "0" "99" "2" "3598048" "3598048" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:02:46" "RNASEH1_000003" "g.3598048C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018899" "" ## 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 = 9 "{{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}}" "0000018897" "00002748" "00" "661" "0" "661" "0" "n.661C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000018897" "00002749" "00" "203" "0" "203" "0" "c.203C>T" "" "p.(Ala68Val)" "r.(?)" "" "" "" "" "" "-" "0000018897" "00002750" "00" "554" "0" "554" "0" "c.554C>T" "" "p.(Ala185Val)" "r.(?)" "" "" "" "" "" "-" "0000018898" "00002748" "00" "576" "0" "576" "0" "n.576C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000018898" "00002749" "00" "118" "0" "118" "0" "c.118C>T" "" "p.(Arg40*)" "r.(?)" "" "" "" "" "" "-" "0000018898" "00002750" "00" "469" "0" "469" "0" "c.469C>T" "" "p.(Arg157*)" "r.(?)" "" "" "" "" "" "-" "0000018899" "00002748" "00" "531" "0" "531" "0" "n.531G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000018899" "00002749" "00" "73" "0" "73" "0" "c.73G>A" "" "p.(Val25Ile)" "r.(?)" "" "" "" "" "" "-" "0000018899" "00002750" "00" "424" "0" "424" "0" "c.424G>A" "" "p.(Val142Ile)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0