### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A13) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "SLC25A13" "solute carrier family 25 member 13" "7" "q21.3" "unknown" "NG_012247.2" "UD_144435873180" "" "" "" "1" "10983" "10165" "603859" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-03-31 15:59:57" "" "" "00005" "2021-08-01 13:35:24" ## 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}}" "00000436" "SLC25A13" "transcript variant 1" "003" "NM_001160210.1" "" "NP_001153682.1" "" "" "" "-191" "3002" "2031" "96322147" "96120220" "00001" "2021-03-31 15:59:58" "" "" "00000437" "SLC25A13" "transcript variant 2" "002" "NM_014251.2" "" "NP_055066.1" "" "" "" "-191" "2999" "2028" "96322147" "96120220" "00001" "2021-03-31 15:59:58" "" "" "00000438" "SLC25A13" "transcript variant 3" "001" "NR_027662.1" "" "" "" "" "" "1" "3074" "3074" "96322147" "96120220" "00001" "2021-03-31 15:59:58" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00097" "CTLN2" "Citrullinemia, Type II, Adult-Onset" "AR" "603471" "" "" "" "00001" "2021-03-31 15:58:53" "" "" "00129" "NICCD" "Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency" "AR" "605814" "" "" "" "00001" "2021-06-01 16:05:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC25A13" "00097" "SLC25A13" "00129" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000552" "" "" "" "1" "" "00004" "{PMID:Yuan-Zong Song et al.(2013):24069319}" "" "" "Malaysia" "" "" "M" "00000663" "" "" "" "1" "" "00004" "{PMID:Hock Lock Ngu et al.(2010):20614727}" "" "" "Malaysia" "Malay" "" "F" "00000664" "" "" "" "1" "" "00004" "{PMID:Hock Lock Ngu et al.(2010):20614727}" "" "" "Malaysia" "Malay" "" "F" "00000665" "" "" "" "1" "" "00004" "{PMID:Hock Lock Ngu et al.(2010):20614727}" "" "" "Malaysia" "Malay" "" "M" "00000705" "" "" "" "1" "" "00004" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "Malaysia" "Chinese" "" "M" "00000706" "" "" "" "1" "" "00004" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "Malaysia" "Malay" "" "F" "00000707" "" "" "" "1" "" "00004" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "Malaysia" "Chinese" "" "M" "00000708" "" "" "" "1" "" "00004" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "Malaysia" "Chinese" "" "F" "00000709" "" "" "" "1" "" "00004" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "Malaysia" "Malay" "" "F" "00000710" "" "" "" "1" "" "00004" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "Malaysia" "Malay" "" "M" "00000711" "" "" "" "1" "" "00004" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "Malaysia" "Chinese" "" "M" "00000712" "" "" "" "1" "" "00004" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "Malaysia" "Malay" "" "F" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00000552" "00097" "00000663" "00129" "00000664" "00129" "00000665" "00129" "00000705" "00129" "00000706" "00129" "00000707" "00129" "00000708" "00129" "00000709" "00129" "00000710" "00129" "00000711" "00129" "00000712" "00129" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00097, 00129 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000243" "00129" "00000663" "00004" "birth weight: 2.3kg, jaundiced with pale-coloured stools and had a mild hepatosplenomegaly. Liver function test revealed conjugated hyperbilirubinemia and evidence of liver dysfunction." "" "0000000244" "00129" "00000664" "00004" "birth weight: 2.1kg, jaundiced with pale stools, failure to thrive and a mild hepatosplenomegaly, had hypokalemia, hypophosphatemia and metabolic acidosis with normal anion gap. Hepatic sonography showed features of fatty liver but normal biliary tract. Hepatic biopsy showed generalized macrovesicular steatosis, bile stasis, and the portal tract was infiltrated by lymphocytes" "" "0000000245" "00129" "00000665" "00004" "birth weight: 2.5kg. Laboratory tests revealed conjugated hyperbilirubinemia. Total blood galactose was elevated seven times from normal but normalized at the age of 3 month." "" "0000000250" "00129" "00000705" "00004" "Birth weight: 2.5kg, physiological jaundice at 3 weeks, Failure to thrive, Hepatomegaly, Splenomegaly." "" "0000000251" "00129" "00000706" "00004" "Birth weight: 2.3kg, jaundice at 8 weeks, Failure to thrive, Hepatomegaly, Splenomegaly." "" "0000000252" "00129" "00000707" "00004" "Birth weight: 2.46kg, cholestatic jaundice at 8 weeks, Mild delay in development" "" "0000000253" "00129" "00000708" "00004" "Birth weight: 2.95kg, transient neonatal physiological jaundice at 8 weeks, Failure to thrive" "" "0000000254" "00129" "00000709" "00004" "Birth weight: 2.1kg, cholestatic jaundice at 20 weeks, Failure to thrive, Hepatomegaly, Splenomegaly." "" "0000000255" "00129" "00000710" "00004" "Birth weight: 2.5kg, physiological jaundice at 8 weeks" "" "0000000256" "00129" "00000711" "00004" "Birth weight: 2.6kg, prolonged cholestatic jaundice at 8 weeks, Hepatomegaly" "" "0000000257" "00129" "00000712" "00004" "Birth weight: 2.5kg, prolonged cholestatic jaundice at 4 weeks, Hepatomegaly." "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000603" "00000552" "1" "00004" "00004" "2021-03-31 16:02:22" "" "" "PCR;SEQ" "DNA" "0000000730" "00000663" "1" "00004" "00004" "2021-06-01 16:09:55" "" "" "?" "DNA" "0000000731" "00000664" "1" "00004" "00004" "2021-06-01 16:20:12" "" "" "?" "DNA" "0000000732" "00000665" "1" "00004" "00004" "2021-06-01 16:20:29" "" "" "?" "DNA" "0000000778" "00000705" "1" "00004" "00004" "2021-06-27 09:08:17" "" "" "PCR" "DNA" "0000000779" "00000706" "1" "00004" "00004" "2021-06-27 09:12:11" "" "" "PCR" "DNA" "0000000780" "00000707" "1" "00004" "00004" "2021-06-27 09:38:56" "" "" "PCR" "DNA" "0000000781" "00000708" "1" "00004" "00004" "2021-06-27 09:42:30" "" "" "PCR" "DNA" "0000000782" "00000709" "1" "00004" "00004" "2021-06-27 09:45:29" "" "" "PCR" "DNA" "0000000783" "00000710" "1" "00004" "00004" "2021-06-27 09:48:36" "" "" "PCR" "DNA" "0000000784" "00000711" "1" "00004" "00004" "2021-06-27 09:51:26" "" "" "PCR" "DNA" "0000000785" "00000712" "1" "00004" "00004" "2021-06-27 09:56:02" "" "" "PCR" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000000603" "SLC25A13" "0000000730" "SLC25A13" "0000000731" "SLC25A13" "0000000732" "SLC25A13" "0000000778" "SLC25A13" "0000000779" "SLC25A13" "0000000780" "SLC25A13" "0000000781" "SLC25A13" "0000000782" "SLC25A13" "0000000783" "SLC25A13" "0000000784" "SLC25A13" "0000000785" "SLC25A13" ## 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}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000002540" "0" "90" "7" "96208891" "96208891" "subst" "0" "00004" "SLC25A13_000005" "g.96208891C>T" "" "{PMID:Yuan-Zong Song et al.(2013):24069319}" "" "" "rs1269555090" "0000002825" "0" "90" "7" "205398" "205399" "ins" "0" "00004" "SLC25A13_000001" "g.205398_205399insTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCCGATTTCTCCATTTTTTT" "" "{PMID:Hock Lock Ngu et al.(2010):20614727}" "IVS16ins3kb" "" "" "0000002826" "0" "90" "7" "205398" "205399" "ins" "0" "00004" "SLC25A13_000001" "g.205398_205399insTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCCGATTTCTCCATTTTTTT" "" "{PMID:Hock Lock Ngu et al.(2010):20614727}" "IVS16ins3kb" "" "" "0000002827" "0" "90" "7" "205398" "205399" "ins" "0" "00004" "SLC25A13_000001" "g.205398_205399insTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCCGATTTCTCCATTTTTTT" "" "{PMID:Hock Lock Ngu et al.(2010):20614727}" "IVS16ins3kb" "" "" "0000002828" "0" "90" "7" "96189373" "96189376" "del" "0" "00004" "SLC25A13_000002" "g.96189373_96189376delATAC" "" "{PMID:Hock Lock Ngu et al.(2010):20614727}" "" "" "" "0000002894" "0" "90" "7" "96189372" "96189375" "del" "0" "00004" "SLC25A13_000003" "g.96189372_96189375del" "" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "rs80338720" "0000002895" "0" "90" "7" "205398" "205399" "ins" "0" "00004" "SLC25A13_000001" "g.205398_205399insTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCCGATTTCTCCATTTTTTT" "" "{PMID:Hui Bein Chew et al.(2010):21161389}" "IVS16ins3kb" "" "" "0000002896" "0" "90" "7" "96189372" "96189375" "del" "0" "00004" "SLC25A13_000003" "g.96189372_96189375del" "" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "rs80338720" "0000002897" "0" "90" "7" "96189372" "96189375" "del" "0" "00004" "SLC25A13_000003" "g.96189372_96189375del" "" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "rs80338720" "0000002898" "0" "90" "7" "205398" "205399" "ins" "0" "00004" "SLC25A13_000001" "g.205398_205399insTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCCGATTTCTCCATTTTTTT" "" "{PMID:Hui Bein Chew et al.(2010):21161389}" "IVS16ins3kb" "" "" "0000002899" "0" "90" "7" "96189372" "96189375" "del" "0" "00004" "SLC25A13_000003" "g.96189372_96189375del" "" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "rs80338720" "0000002900" "0" "90" "7" "205398" "205399" "ins" "0" "00004" "SLC25A13_000001" "g.205398_205399insTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCCGATTTCTCCATTTTTTT" "" "{PMID:Hui Bein Chew et al.(2010):21161389}" "IVS16ins3kb" "" "" "0000002901" "0" "90" "7" "96189372" "96189375" "del" "0" "00004" "SLC25A13_000003" "g.96189372_96189375del" "" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "rs80338720" "0000002902" "0" "90" "7" "96121929" "96121951" "dup" "0" "00004" "SLC25A13_000004" "g.96121929_96121951dup" "" "{PMID:Hui Bein Chew et al.(2010):21161389}" "" "" "rs80338725" "0000002903" "0" "90" "7" "205398" "205399" "ins" "0" "00004" "SLC25A13_000001" "g.205398_205399insTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCCGATTTCTCCATTTTTTT" "" "{PMID:Hui Bein Chew et al.(2010):21161389}" "IVS16ins3kb" "" "" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes SLC25A13 ## Count = 15 "{{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/Published_as}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000002540" "00000437" "90" "415" "0" "415" "0" "c.415G>A" "" "p.(Gly139Arg)" "r.(?)" "" "Uncertain significance" "0000002825" "00000436" "90" "8388607" "0" "8388607" "0" "c.*95915792_*95915793insAAAAAAATGGAGAAATCGGGGGGCGGGGCTGCCAAGGGAGGAGGAAGATGGCGGCGGGGGCGAGGTGAGGTGTTGGCAGTGGAAAGGGGTTCGGGCTCGGGGGGCGGGGGGACNNNNNNNNNNAAAAAAAAAA" "16i" "p.(=)" "r.(=)" "" "Pathogenic​" "0000002826" "00000436" "90" "8388607" "0" "8388607" "0" "c.*95915792_*95915793insAAAAAAATGGAGAAATCGGGGGGCGGGGCTGCCAAGGGAGGAGGAAGATGGCGGCGGGGGCGAGGTGAGGTGTTGGCAGTGGAAAGGGGTTCGGGCTCGGGGGGCGGGGGGACNNNNNNNNNNAAAAAAAAAA" "16i" "p.(=)" "r.(=)" "" "Pathogenic" "0000002827" "00000436" "90" "8388607" "0" "8388607" "0" "c.*95915792_*95915793insAAAAAAATGGAGAAATCGGGGGGCGGGGCTGCCAAGGGAGGAGGAAGATGGCGGCGGGGGCGAGGTGAGGTGTTGGCAGTGGAAAGGGGTTCGGGCTCGGGGGGCGGGGGGACNNNNNNNNNNAAAAAAAAAA" "16i" "p.(=)" "r.(=)" "" "Pathogenic" "0000002828" "00000436" "90" "851" "0" "854" "0" "c.851_854delGTAT" "" "p.(Met285Profs*2)" "r.(?)" "" "" "0000002894" "00000436" "90" "852" "0" "855" "0" "c.852_855del" "9" "p.(Met285Profs*2)" "r.(?)" "852del4" "Pathogenic​" "0000002895" "00000437" "90" "8388607" "0" "8388607" "0" "c.*95915792_*95915793insAAAAAAATGGAGAAATCGGGGGGCGGGGCTGCCAAGGGAGGAGGAAGATGGCGGCGGGGGCGAGGTGAGGTGTTGGCAGTGGAAAGGGGTTCGGGCTCGGGGGGCGGGGGGACNNNNNNNNNNAAAAAAAAAA" "16i" "p.(=)" "r.(=)" "" "Pathogenic​" "0000002896" "00000437" "90" "852" "0" "855" "0" "c.852_855del" "9" "p.(Met285Profs*2)" "r.(?)" "85del4" "Pathogenic​" "0000002897" "00000437" "90" "852" "0" "855" "0" "c.852_855del" "9" "p.(Met285Profs*2)" "r.(?)" "85del4" "Pathogenic" "0000002898" "00000437" "90" "8388607" "0" "8388607" "0" "c.*95915792_*95915793insAAAAAAATGGAGAAATCGGGGGGCGGGGCTGCCAAGGGAGGAGGAAGATGGCGGCGGGGGCGAGGTGAGGTGTTGGCAGTGGAAAGGGGTTCGGGCTCGGGGGGCGGGGGGACNNNNNNNNNNAAAAAAAAAA" "16i" "p.(=)" "r.(=)" "" "Pathogenic" "0000002899" "00000437" "90" "852" "0" "855" "0" "c.852_855del" "9" "p.(Met285Profs*2)" "r.(?)" "85del4" "Pathogenic" "0000002900" "00000437" "90" "8388607" "0" "8388607" "0" "c.*95915792_*95915793insAAAAAAATGGAGAAATCGGGGGGCGGGGCTGCCAAGGGAGGAGGAAGATGGCGGCGGGGGCGAGGTGAGGTGTTGGCAGTGGAAAGGGGTTCGGGCTCGGGGGGCGGGGGGACNNNNNNNNNNAAAAAAAAAA" "16i" "p.(=)" "r.(=)" "" "Pathogenic" "0000002901" "00000437" "90" "852" "0" "855" "0" "c.852_855del" "9" "p.(Met285Profs*2)" "r.(?)" "85del4" "Pathogenic" "0000002902" "00000437" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "16" "p.(Ala554Glyfs*17)" "r.(?)" "1638ins23" "Pathogenic​" "0000002903" "00000437" "90" "8388607" "0" "8388607" "0" "c.*95915792_*95915793insAAAAAAATGGAGAAATCGGGGGGCGGGGCTGCCAAGGGAGGAGGAAGATGGCGGCGGGGGCGAGGTGAGGTGTTGGCAGTGGAAAGGGGTTCGGGCTCGGGGGGCGGGGGGACNNNNNNNNNNAAAAAAAAAA" "16i" "p.(=)" "r.(=)" "" "Pathogenic" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000603" "0000002540" "0000000730" "0000002825" "0000000731" "0000002826" "0000000732" "0000002827" "0000000732" "0000002828" "0000000778" "0000002894" "0000000779" "0000002895" "0000000780" "0000002896" "0000000781" "0000002897" "0000000782" "0000002898" "0000000783" "0000002899" "0000000783" "0000002900" "0000000784" "0000002901" "0000000784" "0000002902" "0000000785" "0000002903"