### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASS1) # 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}}" "ASS1" "argininosuccinate synthase 1" "9" "q34.1" "unknown" "NC_000009.11" "UD_132118773930" "" "" "" "1" "1" "758" "445" "603470" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "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 = 2 "{{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}}" "00000477" "ASS1" "transcript variant 1" "001" "NM_000050.4" "" "NP_000041.2" "" "" "" "-356" "1492" "1239" "133320094" "133376661" "00001" "2013-11-12 21:29:08" "" "" "" "9" "00000478" "ASS1" "transcript variant 2" "002" "NM_054012.3" "" "NP_446464.1" "" "" "" "-294" "1492" "1239" "133320094" "133376661" "00001" "2013-11-12 21:29:08" "" "" "" "9" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 15 "{{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}}" "0000003414" "0" "99" "9" "133327655" "133327655" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:57:04" "ASS1_000009" "g.133327655G>A" "" "" "" "rs121908636" "subst" "0" "; clinvar;" "4.950" "" "" "" "" "MSCV_0003414" "" "0000003415" "0" "99" "9" "133327668" "133327668" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-05-10 15:32:32" "ASS1_000010" "g.133327668C>T" "" "{PMID:1943692:1943692}" "" "rs121908643" "subst" "0" "; clinvar;" "4.950" "" "" "" "" "MSCV_0003415" "" "0000003416" "0" "99" "9" "133333869" "133333869" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:57:06" "ASS1_000011" "g.133333869C>T" "" "{PMID:1943692:1943692}" "" "rs121908644" "subst" "0" "; clinvar;" "4.880" "" "" "" "" "MSCV_0003416" "" "0000003417" "0" "99" "9" "133333936" "133333936" "subst" "35" "0.00630478" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:57:06" "ASS1_000012" "g.133333936G>T" "" "{PMID:11941481:11941481}" "" "rs35269064" "subst" "0" "; clinvar;" "3.990" "" "" "" "" "MSCV_0003417" "" "0000003418" "0" "99" "9" "133342161" "133342161" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:57:07" "ASS1_000013" "g.133342161G>A" "" "" "" "rs121908637" "subst" "0" "; clinvar;" "4.790" "" "" "" "" "MSCV_0003418" "" "0000003419" "0" "99" "9" "133346260" "133346260" "subst" "35" "0.000153775" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-01-08 14:47:59" "ASS1_000014" "g.133346260T>C" "" "{PMID:11941481:11941481}" "" "rs121908646" "subst" "0" "; clinvar;" "4.240" "" "" "" "" "MSCV_0003419" "" "0000003420" "0" "99" "9" "133346264" "133346264" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:57:08" "ASS1_000015" "g.133346264G>A" "" "" "" "rs121908638" "subst" "0" "; clinvar;" "3.340" "" "" "" "" "MSCV_0003420" "" "0000003421" "0" "99" "9" "133355785" "133355785" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:50:51" "ASS1_000003" "g.133355785G>A" "" "{PMID:23757202:23757202}" "" "rs192838388" "subst" "0" "; clinvar;" "4.700" "" "" "" "" "MSCV_0003421" "" "0000003422" "0" "99" "9" "133355833" "133355833" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-04-06 05:09:55" "ASS1_000004" "g.133355833C>T" "" "{PMID:11571557:11571557}" "" "rs121908645" "subst" "0" "; clinvar;" "3.650" "" "" "" "" "MSCV_0003422" "" "0000003423" "0" "99" "9" "133364791" "133364791" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:50:52" "ASS1_000005" "g.133364791C>T" "" "{PMID:2358466:2358466}" "" "rs121908642" "subst" "0" "; clinvar;" "4.500" "" "" "" "" "MSCV_0003423" "" "0000003424" "0" "55" "9" "133364800" "133364800" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:50:53" "ASS1_000006" "g.133364800C>T" "" "" "" "rs183276875" "subst" "0" ";" "4.500" "" "" "" "" "MSCV_0003424" "" "0000003425" "0" "99" "9" "133364809" "133364809" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:50:54" "ASS1_000007" "g.133364809A>C" "" "{PMID:15266621:15266621};{PMID:934749:934749}" "" "rs121908648" "subst" "0" "; clinvar;" "4.500" "" "" "" "" "MSCV_0003425" "" "0000003426" "0" "99" "9" "133364851" "133364851" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:50:54" "ASS1_000008" "g.133364851G>A" "" "" "" "rs121908639" "subst" "0" "; clinvar;" "4.500" "" "" "" "" "MSCV_0003426" "" "0000003427" "0" "99" "9" "133370370" "133370370" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:38" "ASS1_000001" "g.133370370C>T" "" "" "" "rs121908640" "subst" "0" "; clinvar;" "3.670" "" "" "" "" "MSCV_0003427" "" "0000003428" "0" "99" "9" "133374932" "133374932" "subst" "35" "0.000230663" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:39" "ASS1_000002" "g.133374932G>A" "" "{PMID:23757202:23757202};{PMID:19006241:19006241}" "" "rs121908641" "subst" "0" "; clinvar;" "3.560" "" "" "" "" "MSCV_0003428" "" ## 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 = 30 "{{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}}" "0000003414" "00000477" "99" "40" "0" "40" "0" "c.40G>A" "3/16" "p.(Gly14Ser)" "r.(?)" "possibly_damaging(0.773)" "" "missense_variant" "" "" "deleterious(0.02)" "0000003414" "00000478" "99" "40" "0" "40" "0" "c.40G>A" "3/16" "p.(Gly14Ser)" "r.(?)" "possibly_damaging(0.773)" "" "missense_variant" "" "" "deleterious(0.02)" "0000003415" "00000477" "99" "53" "0" "53" "0" "c.53C>T" "3/16" "p.(Ser18Leu)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000003415" "00000478" "99" "53" "0" "53" "0" "c.53C>T" "3/16" "p.(Ser18Leu)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000003416" "00000477" "99" "256" "0" "256" "0" "c.256C>T" "5/16" "p.(Arg86Cys)" "r.(?)" "benign(0.131)" "" "missense_variant" "" "" "tolerated(0.09)" "0000003416" "00000478" "99" "256" "0" "256" "0" "c.256C>T" "5/16" "p.(Arg86Cys)" "r.(?)" "benign(0.131)" "" "missense_variant" "" "" "tolerated(0.09)" "0000003417" "00000477" "99" "323" "0" "323" "0" "c.323G>T" "5/16" "p.(Arg108Leu)" "r.(?)" "benign(0.001)" "" "missense_variant" "" "" "tolerated(0.06)" "0000003417" "00000478" "99" "323" "0" "323" "0" "c.323G>T" "5/16" "p.(Arg108Leu)" "r.(?)" "benign(0.001)" "" "missense_variant" "" "" "tolerated(0.06)" "0000003418" "00000477" "99" "470" "0" "470" "0" "c.470G>A" "7/16" "p.(Arg157His)" "r.(?)" "benign(0.047)" "" "missense_variant" "" "" "deleterious(0)" "0000003418" "00000478" "99" "470" "0" "470" "0" "c.470G>A" "7/16" "p.(Arg157His)" "r.(?)" "benign(0.047)" "" "missense_variant" "" "" "deleterious(0)" "0000003419" "00000477" "99" "535" "0" "535" "0" "c.535T>C" "8/16" "p.(Trp179Arg)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000003419" "00000478" "99" "535" "0" "535" "0" "c.535T>C" "8/16" "p.(Trp179Arg)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000003420" "00000477" "99" "539" "0" "539" "0" "c.539G>A" "8/16" "p.(Ser180Asn)" "r.(?)" "benign(0.341)" "" "missense_variant" "" "" "deleterious(0)" "0000003420" "00000478" "99" "539" "0" "539" "0" "c.539G>A" "8/16" "p.(Ser180Asn)" "r.(?)" "benign(0.341)" "" "missense_variant" "" "" "deleterious(0)" "0000003421" "00000477" "99" "787" "0" "787" "0" "c.787G>A" "12/16" "p.(Val263Met)" "r.(?)" "probably_damaging(0.978)" "" "missense_variant" "" "" "deleterious(0)" "0000003421" "00000478" "99" "787" "0" "787" "0" "c.787G>A" "12/16" "p.(Val263Met)" "r.(?)" "probably_damaging(0.978)" "" "missense_variant" "" "" "deleterious(0)" "0000003422" "00000477" "99" "835" "0" "835" "0" "c.835C>T" "12/16" "p.(Arg279*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003422" "00000478" "99" "835" "0" "835" "0" "c.835C>T" "12/16" "p.(Arg279*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003423" "00000477" "99" "910" "0" "910" "0" "c.910C>T" "13/16" "p.(Arg304Trp)" "r.(?)" "benign(0.222)" "" "missense_variant" "" "" "deleterious(0.04)" "0000003423" "00000478" "99" "910" "0" "910" "0" "c.910C>T" "13/16" "p.(Arg304Trp)" "r.(?)" "benign(0.222)" "" "missense_variant" "" "" "deleterious(0.04)" "0000003424" "00000477" "55" "919" "0" "919" "0" "c.919C>T" "13/16" "p.(Arg307Cys)" "r.(?)" "benign(0.06)" "" "missense_variant" "" "" "tolerated(0.11)" "0000003424" "00000478" "55" "919" "0" "919" "0" "c.919C>T" "13/16" "p.(Arg307Cys)" "r.(?)" "benign(0.06)" "" "missense_variant" "" "" "tolerated(0.11)" "0000003425" "00000477" "99" "928" "0" "928" "0" "c.928A>C" "13/16" "p.(Lys310Gln)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000003425" "00000478" "99" "928" "0" "928" "0" "c.928A>C" "13/16" "p.(Lys310Gln)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000003426" "00000477" "99" "970" "0" "970" "0" "c.970G>A" "13/16" "p.(Gly324Ser)" "r.(?)" "probably_damaging(0.964)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.03)" "0000003426" "00000478" "99" "970" "0" "970" "0" "c.970G>A" "13/16" "p.(Gly324Ser)" "r.(?)" "probably_damaging(0.964)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.03)" "0000003427" "00000477" "99" "1087" "0" "1087" "0" "c.1087C>T" "14/16" "p.(Arg363Trp)" "r.(?)" "benign(0.386)" "" "missense_variant" "" "" "deleterious(0.04)" "0000003427" "00000478" "99" "1087" "0" "1087" "0" "c.1087C>T" "14/16" "p.(Arg363Trp)" "r.(?)" "benign(0.386)" "" "missense_variant" "" "" "deleterious(0.04)" "0000003428" "00000477" "99" "1168" "0" "1168" "0" "c.1168G>A" "15/16" "p.(Gly390Arg)" "r.(?)" "probably_damaging(0.938)" "" "missense_variant" "" "" "deleterious(0.03)" "0000003428" "00000478" "99" "1168" "0" "1168" "0" "c.1168G>A" "15/16" "p.(Gly390Arg)" "r.(?)" "probably_damaging(0.938)" "" "missense_variant" "" "" "deleterious(0.03)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0