### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AGK) # 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}}" "AGK" "acylglycerol kinase" "7" "q34" "unknown" "NC_000007.13" "UD_136085473085" "" "https://www.LOVD.nl/AGK" "" "1" "21869" "55750" "610345" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/AGK_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-02-10 00:00:00" "00006" "2023-11-14 13:54:34" "00000" "2025-07-08 13:22:38" ## 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}}" "00002230" "AGK" "acylglycerol kinase" "001" "NM_018238.3" "" "NP_060708.1" "" "" "" "-171" "2754" "1269" "141251078" "141354209" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "01695" "Sengers;MTDPS10" "Senger syndrome (mitochondrial DNA depletion syndrome, type 10 (cardiomyopathic type, MTDPS-10))" "AR" "212350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-11-14 13:54:06" "03705" "CTRCT38;CATC5" "cataract, type 38 (CTRCT-38, cataract, autosomal recessive congenital 5 (CATC-5))" "AR" "614691" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05165" "CCTRCT" "cataract, congenital (CCTRCT)" "" "" "" "" "" "00006" "2016-05-15 20:37:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "AGK" "00296" "AGK" "01695" "AGK" "03705" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00117865" "" "" "" "3" "" "00549" "{PMID:Aldahmesh 2012:22415731}, {PMID:Aldahmesh 2012:22935719}, {PMID:Khan 2015:26622071}" "5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents (2nd cousin parents)" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "family;Cata_DGU-12;Fam17" "00444931" "" "" "" "3" "" "00006" "{PMID:Patel 2017:27878435}" "family" "" "" "" "" "0" "" "" "" "06-00549" "00445005" "" "" "" "1" "" "00006" "{PMID:Reis 2013:23508780}" "" "" "" "United States" "" "0" "" "" "" "Pat19" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00117865" "05165" "00444931" "00296" "00445005" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00296, 01695, 03705, 05165 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000093253" "05165" "00117865" "00549" "Familial, autosomal recessive" "17y" "see paper; ..., isolated congenital cataract, otherwise normal ophthalmologic and systemic examination; no evidence of cardiomyopathy, skeletal myopathy or lactic acidosis" "" "" "" "" "" "" "" "CTRCT38" "congenital cataract" "0000334181" "00296" "00444931" "00006" "Familial, autosomal recessive" "" "congenital cataract; intermittent 3-methylglutaconic aciduria, no syndromic clinical signs of Sanger’s syndrome" "" "" "" "" "" "" "" "CTRCT38" "cataract" "0000334256" "00296" "00445005" "00006" "Familial, autosomal dominant" "" "congenital cataract, nystagmus; glaucoma, corneal opacity" "" "" "" "" "" "" "" "" "cataract" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000118328" "00117865" "1" "00549" "00549" "2012-02-13 17:17:46" "00006" "2023-11-14 14:12:49" "arraySNP;PCR;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000446500" "00444931" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446574" "00445005" "1" "00006" "00006" "2023-12-29 15:44:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000118328" "AGK" ## 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 = 24 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000194422" "3" "90" "7" "141315268" "141315268" "subst" "2.442E-5" "00549" "AGK_000001" "g.141315268C>G" "" "{PMID:Aldahmesh 2012:22415731}, {PMID:Aldahmesh 2012:22935719}, {PMID:Khan 2015:26622071}" "" "422-3C>G" "" "Germline" "yes" "" "0" "" "" "g.141615468C>G" "" "pathogenic (recessive)" "" "0000254620" "0" "30" "7" "141255283" "141255283" "subst" "0.00147525" "01943" "AGK_000002" "g.141255283A>G" "" "" "" "AGK(NM_018238.4):c.17A>G (p.K6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.141555483A>G" "" "likely benign" "" "0000262068" "0" "50" "7" "141352644" "141352644" "subst" "4.06131E-5" "01943" "AGK_000005" "g.141352644G>A" "" "" "" "AGK(NM_018238.4):c.1189G>A (p.V397M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.141652844G>A" "" "VUS" "" "0000262069" "0" "10" "7" "141315267" "141315267" "subst" "0.0010989" "01943" "AGK_000003" "g.141315267C>G" "" "" "" "AGK(NM_018238.4):c.424-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.141615467C>G" "" "benign" "" "0000262070" "0" "30" "7" "141341687" "141341687" "subst" "0" "01943" "AGK_000004" "g.141341687G>A" "" "" "" "AGK(NM_018238.4):c.954G>A (p.R318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.141641887G>A" "" "likely benign" "" "0000531008" "0" "30" "7" "141255355" "141255355" "subst" "8.14471E-5" "01804" "AGK_000006" "g.141255355A>G" "" "" "" "AGK(NM_018238.3):c.89A>G (p.(Tyr30Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.141555555A>G" "" "likely benign" "" "0000531010" "0" "90" "7" "141313964" "141313964" "subst" "2.79603E-5" "02327" "AGK_000008" "g.141313964C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.141614164C>T" "" "pathogenic" "" "0000531011" "0" "30" "7" "141341075" "141341075" "subst" "0" "01943" "AGK_000009" "g.141341075A>G" "" "" "" "AGK(NM_018238.4):c.754A>G (p.I252V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.141641275A>G" "" "likely benign" "" "0000610876" "0" "30" "7" "141251240" "141251240" "subst" "0" "01943" "AGK_000010" "g.141251240T>C" "" "" "" "AGK(NM_018238.4):c.-15+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.141551440T>C" "" "likely benign" "" "0000610877" "0" "50" "7" "141255295" "141255295" "subst" "0.000292533" "02327" "AGK_000011" "g.141255295A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.141555495A>G" "" "VUS" "" "0000610878" "0" "50" "7" "141311028" "141311028" "subst" "0.000158587" "02327" "AGK_000012" "g.141311028G>C" "" "" "" "AGK(NM_018238.4):c.331G>C (p.E111Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.141611228G>C" "" "VUS" "" "0000610879" "0" "30" "7" "141315345" "141315345" "subst" "2.03183E-5" "01943" "AGK_000013" "g.141315345C>T" "" "" "" "AGK(NM_018238.4):c.498C>T (p.A166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.141615545C>T" "" "likely benign" "" "0000610880" "0" "30" "7" "141341705" "141341705" "subst" "0" "02327" "AGK_000014" "g.141341705G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.141641905G>A" "" "likely benign" "" "0000621839" "0" "50" "7" "141351414" "141351414" "subst" "0" "01943" "AGK_000015" "g.141351414G>A" "" "" "" "AGK(NM_018238.4):c.1131+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.141651614G>A" "" "VUS" "" "0000678012" "0" "50" "7" "141349126" "141349131" "del" "0" "01943" "AGK_000016" "g.141349126_141349131del" "" "" "" "AGK(NM_018238.4):c.1039_1044delACTATA (p.T347_I348del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689931" "0" "30" "7" "141255314" "141255314" "subst" "4.0619E-5" "01943" "AGK_000017" "g.141255314A>G" "" "" "" "AGK(NM_018238.4):c.48A>G (p.T16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689932" "0" "30" "7" "141255321" "141255321" "subst" "0.000264019" "01943" "AGK_000018" "g.141255321C>T" "" "" "" "AGK(NM_018238.4):c.55C>T (p.L19F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721316" "0" "50" "7" "141301040" "141301040" "subst" "1.63075E-5" "01943" "AGK_000007" "g.141301040C>T" "" "" "" "AGK(NM_018238.4):c.257C>T (p.P86L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802968" "0" "90" "7" "141352616" "141352619" "del" "0" "02325" "AGK_000019" "g.141352616_141352619del" "" "" "" "AGK(NM_018238.4):c.1161_1164delTGAG (p.S387Rfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851486" "0" "30" "7" "141311028" "141311028" "subst" "0.000158587" "01943" "AGK_000012" "g.141311028G>C" "" "" "" "AGK(NM_018238.4):c.331G>C (p.E111Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851487" "0" "50" "7" "141315285" "141315285" "subst" "8.13802E-6" "01943" "AGK_000020" "g.141315285G>T" "" "" "" "AGK(NM_018238.4):c.438G>T (p.K146N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948862" "0" "90" "7" "141301031" "141301031" "dup" "0" "02326" "AGK_000021" "g.141301031dup" "" "" "" "AGK(NM_018238.4):c.248dupA (p.N83Kfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000954844" "3" "90" "7" "141315268" "141315268" "subst" "2.442E-5" "00006" "AGK_000001" "g.141315268C>G" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141615468C>G" "" "pathogenic (recessive)" "" "0000954925" "1" "50" "7" "141341685" "141341685" "subst" "0" "00006" "AGK_000022" "g.141341685C>T" "" "{PMID:Reis 2013:23508780}" "" "" "" "Germline" "no" "" "0" "" "" "g.141641885C>T" "" "VUS" "" ## 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 AGK ## Count = 24 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000194422" "00002230" "90" "424" "-3" "424" "-3" "c.424-3C>G" "r.424_518del" "p.Ala142Thrfs*4" "7i" "0000254620" "00002230" "30" "17" "0" "17" "0" "c.17A>G" "r.(?)" "p.(Lys6Arg)" "" "0000262068" "00002230" "50" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Val397Met)" "" "0000262069" "00002230" "10" "424" "-4" "424" "-4" "c.424-4C>G" "r.spl?" "p.?" "" "0000262070" "00002230" "30" "954" "0" "954" "0" "c.954G>A" "r.(?)" "p.(Arg318=)" "" "0000531008" "00002230" "30" "89" "0" "89" "0" "c.89A>G" "r.(?)" "p.(Tyr30Cys)" "" "0000531010" "00002230" "90" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137Ter)" "" "0000531011" "00002230" "30" "754" "0" "754" "0" "c.754A>G" "r.(?)" "p.(Ile252Val)" "" "0000610876" "00002230" "30" "-15" "6" "-15" "6" "c.-15+6T>C" "r.(=)" "p.(=)" "" "0000610877" "00002230" "50" "29" "0" "29" "0" "c.29A>G" "r.(?)" "p.(Asn10Ser)" "" "0000610878" "00002230" "50" "331" "0" "331" "0" "c.331G>C" "r.(?)" "p.(Glu111Gln)" "" "0000610879" "00002230" "30" "498" "0" "498" "0" "c.498C>T" "r.(?)" "p.(Ala166=)" "" "0000610880" "00002230" "30" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Pro324=)" "" "0000621839" "00002230" "50" "1131" "5" "1131" "5" "c.1131+5G>A" "r.spl?" "p.?" "" "0000678012" "00002230" "50" "1039" "0" "1044" "0" "c.1039_1044del" "r.(?)" "p.(Thr347_Ile348del)" "" "0000689931" "00002230" "30" "48" "0" "48" "0" "c.48A>G" "r.(?)" "p.(Thr16=)" "" "0000689932" "00002230" "30" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Leu19Phe)" "" "0000721316" "00002230" "50" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "" "0000802968" "00002230" "90" "1161" "0" "1164" "0" "c.1161_1164del" "r.(?)" "p.(Ser387Argfs*10)" "" "0000851486" "00002230" "30" "331" "0" "331" "0" "c.331G>C" "r.(?)" "p.(Glu111Gln)" "" "0000851487" "00002230" "50" "438" "0" "438" "0" "c.438G>T" "r.(?)" "p.(Lys146Asn)" "" "0000948862" "00002230" "90" "248" "0" "248" "0" "c.248dup" "r.(?)" "p.(Asn83Lysfs*17)" "" "0000954844" "00002230" "90" "424" "-3" "424" "-3" "c.424-3C>G" "r.spl" "p.?" "" "0000954925" "00002230" "50" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000118328" "0000194422" "0000446500" "0000954844" "0000446574" "0000954925"