### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SERAC1) # 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}}" "SERAC1" "serine active site containing 1" "6" "q25.3" "unknown" "NC_000006.11" "UD_133034082048" "" "" "" "1" "1" "21061" "84947" "614725" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com" "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}}" "00000295" "SERAC1" "serine active site containing 1" "001" "NM_032861.3" "" "NP_116250.3" "" "" "" "-142" "3827" "1965" "158589312" "158530536" "00001" "2013-11-07 13:59:21" "" "" "" "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}}" "00484" "MEGDEL" "3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL" "614739" "" "" "" "00001" "2014-08-15 13:10:42" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SERAC1" "00484" ## 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 = 19 "{{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}}" "0000001215" "0" "99" "6" "158567859" "158567859" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-03-07 01:15:38" "SERAC1_000002" "g.158567859G>A" "" "" "" "" "subst" "0" ";" "3.820" "" "" "" "" "MSCV_0001215" "" "0000001216" "0" "99" "6" "158571548" "158571548" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-07-17 14:21:16" "SERAC1_000001" "g.158571548G>A" "" "" "" "" "subst" "0" ";" "4.730" "" "" "" "" "MSCV_0001216" "" "0000022177" "0" "99" "6" "158535858" "158535859" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-07 01:15:48" "SERAC1_000013" "g.158535858_158535859insAGAT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022177" "" "0000022178" "0" "99" "6" "158535875" "158535876" "ins" "35" "0.000079885" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-07 01:15:35" "SERAC1_000009" "g.158535875_158535876insAG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022178" "" "0000022179" "0" "99" "6" "158535928" "158535928" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-07 01:16:05" "SERAC1_000010" "g.158535928C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022179" "" "0000022180" "0" "99" "6" "158537281" "158537283" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-07 01:15:55" "SERAC1_000011" "g.158537281_158537283del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022180" "" "0000022181" "0" "99" "6" "158538758" "158538758" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-07 01:15:32" "SERAC1_000012" "g.158538758C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022181" "" "0000022182" "0" "99" "6" "158540199" "158540202" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-28 12:08:12" "SERAC1_000004" "g.158540199_158540202del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022182" "" "0000022183" "0" "55" "6" "158564166" "158564166" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-07 01:15:42" "SERAC1_000005" "g.158564166T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022183" "" "0000022184" "0" "99" "6" "158567859" "158567859" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-07 01:16:01" "SERAC1_000002" "g.158567859G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001215" "" "0000022185" "0" "77" "6" "158571484" "158571485" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-07 01:15:45" "SERAC1_000006" "g.158571484_158571485insCATG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022185" "" "0000022186" "0" "99" "6" "158571548" "158571548" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-07 01:15:52" "SERAC1_000001" "g.158571548G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001216" "" "0000022187" "0" "77" "6" "158579299" "158579299" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-29 06:10:13" "SERAC1_000007" "g.158579299A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022187" "" "0000022188" "0" "77" "6" "158579375" "158579375" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-07 01:15:29" "SERAC1_000008" "g.158579375G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022188" "" "0000026586" "0" "00" "6" "158541539" "158541539" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:16:41" "SERAC1_000015" "g.158541539T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026587" "0" "00" "6" "158576393" "158576396" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:16:47" "SERAC1_000016" "g.158576393_158576396del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026588" "0" "00" "6" "158576548" "158576548" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-29 06:10:13" "SERAC1_000017" "g.158576548G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026589" "0" "00" "6" "158576622" "158576622" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:17:00" "SERAC1_000018" "g.158576622C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026590" "0" "00" "6" "158579305" "158579305" "subst" "35" "0.00030755" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:25:40" "SERAC1_000014" "g.158579305T>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 = 19 "{{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}}" "0000001215" "00000295" "55" "442" "0" "442" "0" "c.442C>T" "6/17" "p.(Arg148*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001216" "00000295" "55" "202" "0" "202" "0" "c.202C>T" "4/17" "p.(Arg68*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000022177" "00000295" "00" "1646" "0" "1647" "0" "c.1646_1647insATCT" "" "p.(Leu550Serfs*19)" "r.(?)" "" "" "" "" "" "-" "0000022178" "00000295" "00" "1629" "0" "1630" "0" "c.1629_1630insCT" "" "p.(Val544Leufs*43)" "r.(?)" "" "" "" "" "" "-" "0000022179" "00000295" "00" "1577" "0" "1577" "0" "c.1577G>A" "" "p.(Gly526Glu)" "r.(?)" "" "" "" "" "" "-" "0000022180" "00000295" "00" "1435" "0" "1437" "0" "c.1435_1437del" "" "p.(Leu479del)" "r.(?)" "" "" "" "" "" "-" "0000022181" "00000295" "00" "1403" "1" "1403" "1" "c.1403+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022182" "00000295" "00" "1167" "0" "1170" "0" "c.1167_1170del" "" "p.(Gln390Profs*29)" "r.(?)" "" "" "" "" "" "-" "0000022183" "00000295" "00" "660" "0" "660" "0" "c.660A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022184" "00000295" "00" "442" "0" "442" "0" "c.442C>T" "" "p.(Arg148*)" "r.(?)" "" "" "" "" "" "-" "0000022185" "00000295" "00" "265" "0" "265" "1" "c.265_265+1insCATG" "" "p.?" "r.?" "" "" "" "" "" "-" "0000022186" "00000295" "00" "202" "0" "202" "0" "c.202C>T" "" "p.(Arg68*)" "r.(?)" "" "" "" "" "" "-" "0000022187" "00000295" "00" "91" "6" "91" "6" "c.91+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022188" "00000295" "00" "21" "0" "21" "0" "c.21C>A" "" "p.(Cys7*)" "r.(?)" "" "" "" "" "" "-" "0000026586" "00000295" "00" "1084" "0" "1084" "0" "c.1084A>T" "" "p.(Ile362Phe)" "r.(?)" "" "" "" "" "" "-" "0000026587" "00000295" "00" "92" "-13" "92" "-10" "c.92-13_92-10del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026588" "00000295" "00" "92" "-165" "92" "-165" "c.92-165C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026589" "00000295" "00" "92" "-239" "92" "-239" "c.92-239G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026590" "00000295" "00" "91" "0" "91" "0" "c.91A>G" "" "p.(Arg31Gly)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0