### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = QRSL1)
# 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}}"
"QRSL1"	"glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1"	"6"	"q21"	"unknown"	"NC_000006.11"	"UD_132610629260"	""	"https://www.LOVD.nl/QRSL1"	""	"1"	"21020"	"55278"	"0"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/QRSL1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2017-02-22 14:44:02"	"00000"	"2025-05-05 21:14:00"


## 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}}"
"00017252"	"QRSL1"	"glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1"	"001"	"NM_018292.4"	""	"NP_060762.3"	""	""	""	"-116"	"4002"	"1587"	"107077441"	"107116292"	""	"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}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00351"	"CMH"	"cardiomyopathy, hypertrophic (CMH)"	""	""	""	""	""	"00006"	"2014-03-13 16:15:54"	"00006"	"2015-03-06 17:16:01"
"05684"	"neuropathy, optic"	"neuropathy, optic"	""	""	""	""	""	"00006"	"2020-01-10 11:57:41"	"00091"	"2021-02-19 09:59:43"
"06726"	"COXPD40"	"Combined oxidative phosphorylation deficiency 40"	"AR"	"618835"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"QRSL1"	"06726"


## 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}}"
"00100428"	""	""	""	"1"	""	"01910"	""	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00301725"	""	""	""	"1"	""	"00006"	"{PMID:Maddirevula 2019:30237576}"	""	"M"	""	""	""	"0"	""	""	""	"17-2764"
"00328831"	""	""	""	"1"	""	"03952"	"{PMID:D\'Gama 2021:33037779}"	""	"M"	"no"	""	""	""	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00100428"	"00351"
"00301725"	"00198"
"00328831"	"05684"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00351, 05684, 06726
## Count = 3
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000078634"	"00351"	"00100428"	"01910"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000228823"	"00198"	"00301725"	"00006"	"Familial, autosomal recessive"	"9y"	"spastic diplegia, cognitive impairment, deafness and episodes of encephalopathy. Brain MRI revealed progressive and extensive abnormal signal involving the deep gray matter structures including the hypothalami, medial aspect of the thalami, basal ganglia and substantia nigra in a symmetric fashion most consistent with Leigh disease. Diffusion restriction in the midbrain lesions suggestive of acute disease.  Lactic acid in blood fluctuated between high and high normal.  There is positive family history of a similarly affected sister."	""	""	""	""	""	""	""	""	""	""	""
"0000247038"	"05684"	"00328831"	"03952"	"Familial, autosomal recessive"	"04y"	"Neonatal respiratory distress (HP:0002643); Nasogastric tube feeding in infancy (HP:0011470); Horizontal nystagmus (HP:0000666); High hypermetropia (HP:0008499); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649); Infantile axial hypotonia (HP:0009062); Limb hypertonia (HP:0002509); Ataxia (HP:0001251); Choreoathetosis (HP:0001266); Focal T2 hypointense basal ganglia lesion (HP:0012752); Focal hyperintensity of cerebral white matter on MRI (HP:0040328); Decreased thalamic volume (HP:0012695); Short stature (HP:0004322); Macrocephaly (HP:0000256); High palate (HP:0000218); Wide intermamillary distance (HP:0006610); Reduced tendon reflexes (HP:0001315); Oral-pharyngeal dysphagia (HP:0200136); Lactic acidosis (HP:0003128); Elevated lactate:pyruvate ratio (HP:0032653); Developmental regression (HP:0002376); Increased size of nasopharyngeal adenoids (HP:0040261); Bilateral tonic-clonic seizure (HP:0002069); Focal-onset seizure (HP:0007359); Interictal epileptiform activity (HP:0011182); EEG with generalized slow activity (HP:0010845);"	"00y03m"	""	""	""	""	""	""	""	""	""	""


## 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}}"
"0000100834"	"00100428"	"1"	"01910"	"01910"	"2017-02-21 15:02:39"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000302849"	"00301725"	"1"	"00006"	"00006"	"2020-05-22 17:20:34"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000330047"	"00328831"	"1"	"03952"	"03952"	"2021-02-01 11:39:53"	""	""	"SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000100834"	"QRSL1"
"0000302849"	"QRSL1"
"0000330047"	"RTN4IP1"


## 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 = 21
"{{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}}"
"0000163220"	"3"	"90"	"6"	"107102602"	"107102602"	"subst"	"8.5176E-6"	"01910"	"QRSL1_000001"	"g.107102602A>G"	""	""	""	""	"description at RNA level correct?"	"Germline"	""	""	"0"	""	""	"g.106654727A>G"	""	"pathogenic"	""
"0000526578"	"0"	"30"	"6"	"107040095"	"107040095"	"subst"	"2.03094E-5"	"01943"	"QRSL1_000002"	"g.107040095G>A"	""	""	""	"RTN4IP1(NM_032730.5):c.750C>T (p.D250=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.106592220G>A"	""	"likely benign"	""
"0000526579"	"0"	"10"	"6"	"107077597"	"107077597"	"subst"	"0.00129113"	"02327"	"QRSL1_000003"	"g.107077597C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.106629722C>T"	""	"benign"	""
"0000526581"	"0"	"10"	"6"	"107113715"	"107113715"	"subst"	"0.43885"	"02327"	"QRSL1_000005"	"g.107113715G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.106665840G>A"	""	"benign"	""
"0000609890"	"0"	"10"	"6"	"107070677"	"107070677"	"subst"	"0.000747978"	"02330"	"QRSL1_000006"	"g.107070677G>A"	""	""	""	"RTN4IP1(NM_032730.5):c.426+16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.106622802G>A"	""	"benign"	""
"0000655444"	"0"	"30"	"6"	"107031255"	"107031255"	"subst"	"1.62748E-5"	"01943"	"QRSL1_000007"	"g.107031255A>G"	""	""	""	"RTN4IP1(NM_032730.5):c.1031T>C (p.M344T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.106583380A>G"	""	"likely benign"	""
"0000666206"	"3"	"50"	"6"	"107102800"	"107102800"	"subst"	"0"	"00006"	"QRSL1_000008"	"g.107102800A>G"	""	"{PMID:Maddirevula 2019:30237576}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.106654925A>G"	""	"VUS"	"ACMG"
"0000689597"	"0"	"50"	"6"	"107040160"	"107040160"	"subst"	"0.000358096"	"01943"	"QRSL1_000009"	"g.107040160C>A"	""	""	""	"RTN4IP1(NM_032730.5):c.685G>T (p.D229Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000714478"	"21"	"90"	"6"	"106987026"	"107077832"	"del"	"0"	"03952"	"RTN4IP1_000016"	"g.(?_106987026)_(107077832_?)del"	""	"{PMID:D\'Gama 2021:33037779}"	""	"hg19 chr6:106,987,026–107,077,832"	"CNV analysis from exome data identified a 90.8 kb maternal deletion (hg19\r\nchr6:106,987,026–107,077,832) encompassing the entire gene, consistent with deletion of RTN4IP1 inherited from the mother. The deletion includes part of AIM1, which may be associated with human melanoma, and part of QRLS1, which is associated with an AR disorder, thus not likely disease-causing although could act as modifiers."	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000720613"	"0"	"50"	"6"	"107031213"	"107031213"	"subst"	"0.000724797"	"01943"	"QRSL1_000010"	"g.107031213T>A"	""	""	""	"RTN4IP1(NM_032730.5):c.1073A>T (p.D358V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000860057"	"0"	"90"	"6"	"107070811"	"107070811"	"subst"	"2.84299E-5"	"02330"	"RTN4IP1_000001"	"g.107070811C>T"	""	""	""	"RTN4IP1(NM_032730.5):c.308G>A (p.R103H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000886971"	"0"	"30"	"6"	"107050817"	"107050817"	"subst"	"0.000198834"	"02330"	"QRSL1_000011"	"g.107050817A>G"	""	""	""	"RTN4IP1(NM_032730.5):c.621-20T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886972"	"0"	"50"	"6"	"107076838"	"107076838"	"subst"	"4.87452E-5"	"02330"	"QRSL1_000012"	"g.107076838C>T"	""	""	""	"RTN4IP1(NM_032730.5):c.59G>A (p.W20*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000886973"	"0"	"30"	"6"	"107088232"	"107088232"	"subst"	"0.000109755"	"02327"	"QRSL1_000013"	"g.107088232G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912372"	"0"	"30"	"6"	"107067106"	"107067106"	"subst"	"8.12334E-6"	"02330"	"QRSL1_000014"	"g.107067106G>A"	""	""	""	"RTN4IP1(NM_032730.5):c.591C>T (p.G197=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000924401"	"0"	"30"	"6"	"107070855"	"107070856"	"del"	"0"	"02330"	"QRSL1_000015"	"g.107070855_107070856del"	""	""	""	"RTN4IP1(NM_032730.5):c.275-11_275-10delGT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948608"	"0"	"70"	"6"	"107040044"	"107040044"	"dup"	"0"	"02330"	"QRSL1_000016"	"g.107040044dup"	""	""	""	"RTN4IP1(NM_032730.5):c.804dupA (p.P269Tfs*3)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000976911"	"0"	"30"	"6"	"107040028"	"107040028"	"subst"	"0.000455985"	"02330"	"QRSL1_000017"	"g.107040028C>T"	""	""	""	"RTN4IP1(NM_032730.5):c.806+11G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976912"	"0"	"30"	"6"	"107100396"	"107100396"	"subst"	"0.0507635"	"01804"	"QRSL1_000018"	"g.107100396A>G"	""	""	""	"QRSL1(NM_018292.5):c.788A>G (p.(Asn263Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976913"	"0"	"50"	"6"	"107110896"	"107110896"	"subst"	"4.06171E-6"	"01804"	"QRSL1_000019"	"g.107110896G>A"	""	""	""	"QRSL1(NM_018292.5):c.1202G>A (p.(Arg401His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035392"	"0"	"30"	"6"	"107050773"	"107050773"	"subst"	"0.00109057"	"01804"	"QRSL1_000020"	"g.107050773G>A"	""	""	""	"RTN4IP1(NM_032730.5):c.645C>T (p.(Gly215=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 QRSL1
## Count = 21
"{{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}}"
"0000163220"	"00017252"	"90"	"850"	"-3"	"850"	"-3"	"c.850-3A>G"	"r.[850_1042del,850_931del]"	"p.?"	"7i"
"0000526578"	"00017252"	"30"	"-37462"	"0"	"-37462"	"0"	"c.-37462G>A"	"r.(?)"	"p.(=)"	""
"0000526579"	"00017252"	"10"	"24"	"17"	"24"	"17"	"c.24+17C>T"	"r.(=)"	"p.(=)"	""
"0000526581"	"00017252"	"10"	"1425"	"0"	"1425"	"0"	"c.1425G>A"	"r.(?)"	"p.(Leu475=)"	""
"0000609890"	"00017252"	"10"	"-6880"	"0"	"-6880"	"0"	"c.-6880G>A"	"r.(?)"	"p.(=)"	""
"0000655444"	"00017252"	"30"	"-46302"	"0"	"-46302"	"0"	"c.-46302A>G"	"r.(?)"	"p.(=)"	""
"0000666206"	"00017252"	"50"	"1042"	"3"	"1042"	"3"	"c.1042+3A>G"	"r.spl?"	"p.?"	""
"0000689597"	"00017252"	"50"	"-37397"	"0"	"-37397"	"0"	"c.-37397C>A"	"r.(?)"	"p.(=)"	""
"0000714478"	"00017252"	"90"	"0"	"0"	"0"	"0"	"c.-116_(24+252_?){0}"	"r.0?"	"p.0?"	"_1_"
"0000720613"	"00017252"	"50"	"-46344"	"0"	"-46344"	"0"	"c.-46344T>A"	"r.(?)"	"p.(=)"	""
"0000860057"	"00017252"	"90"	"-6746"	"0"	"-6746"	"0"	"c.-6746C>T"	"r.(?)"	"p.(=)"	""
"0000886971"	"00017252"	"30"	"-26740"	"0"	"-26740"	"0"	"c.-26740A>G"	"r.(?)"	"p.(=)"	""
"0000886972"	"00017252"	"50"	"-719"	"0"	"-719"	"0"	"c.-719C>T"	"r.(?)"	"p.(=)"	""
"0000886973"	"00017252"	"30"	"33"	"0"	"33"	"0"	"c.33G>A"	"r.(?)"	"p.(Ala11=)"	""
"0000912372"	"00017252"	"30"	"-10451"	"0"	"-10451"	"0"	"c.-10451G>A"	"r.(?)"	"p.(=)"	""
"0000924401"	"00017252"	"30"	"-6702"	"0"	"-6701"	"0"	"c.-6702_-6701del"	"r.(?)"	"p.(=)"	""
"0000948608"	"00017252"	"70"	"-37513"	"0"	"-37513"	"0"	"c.-37513dup"	"r.(?)"	"p.(=)"	""
"0000976911"	"00017252"	"30"	"-37529"	"0"	"-37529"	"0"	"c.-37529C>T"	"r.(?)"	"p.(=)"	""
"0000976912"	"00017252"	"30"	"788"	"0"	"788"	"0"	"c.788A>G"	"r.(?)"	"p.(Asn263Ser)"	""
"0000976913"	"00017252"	"50"	"1202"	"0"	"1202"	"0"	"c.1202G>A"	"r.(?)"	"p.(Arg401His)"	""
"0001035392"	"00017252"	"30"	"-26784"	"0"	"-26784"	"0"	"c.-26784G>A"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000100834"	"0000163220"
"0000302849"	"0000666206"
"0000330047"	"0000714478"