### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = QKI)
# 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}}"
"QKI"	"QKI, KH domain containing, RNA binding"	"6"	"q26"	"unknown"	"NG_029604.1"	"UD_132084408332"	""	"https://www.LOVD.nl/QKI"	""	"1"	"21100"	"9444"	"609590"	"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/QKI_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2017-04-11 15:41:53"	"00000"	"2024-08-28 13:16:32"


## 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}}"
"00017244"	"QKI"	"quaking homolog, KH domain RNA binding (mouse), transcript variant 1"	"004"	"NM_006775.2"	""	"NP_006766.1"	""	""	""	"-551"	"8912"	"1026"	"163835675"	"163999628"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{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"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00103230"	""	""	""	"1"	""	"00006"	"{PMID:Backx 2010:20082458}, {DOI:Backx 2010:10.1002/ajmg.a.33202}"	""	"F"	""	"Belgium"	""	"0"	""	""	""	"20082458-Pat"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00103230"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198
## Count = 1
"{{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}}"
"0000081314"	"00198"	"00103230"	"00006"	"Isolated (sporadic)"	""	"at birth pronounced hypotonia, short neck, genital hypoplasia with underdeveloped labia majora, facial dysmorphism incl. bilateral epicanthus, narrow palpebral fissures, broad nasal bridge with small nose and bulbous tip, small mouth with downturned corners,\r\nlong philtrum, small protruding cupped ears; er time ovmotor milestones and language acquisition delayed, persisting\r\nhypotonia, developed borderline mental retardation (total IQ72 [WISC-R]), ..."	"00y00m01d"	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000103686"	"00103230"	"1"	"00006"	"00006"	"2017-04-11 20:06:46"	""	""	"arrayCGH;FISH;PCR"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000103686"	"QKI"


## 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 = 13
"{{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}}"
"0000167165"	"0"	"90"	"6"	"0"	"0"	""	"0"	"00006"	"QKI_000001"	"g.(163876454_163899928)_qterdelins[NC_000005.9:(115200000_121400000)_qter]"	""	"{PMID:Backx 2010:20082458}, {DOI:Backx 2010:10.1002/ajmg.a.33202}"	""	""	"FISH split signal clone RP11-788I06; qRT-PCR on lymphoblastoid cell line RNA shows reduced expression (0.5) exons 4-5 but normal expression exons 1-2, suggestive of a fusion transcript"	"De novo"	"-"	""	"0"	""	"46,XX t(5;6)(q23.1;q26) dn"	""	""	"pathogenic"	""
"0000331346"	"0"	"50"	"6"	"163984768"	"163984768"	"subst"	"0.000104637"	"01804"	"QKI_000003"	"g.163984768A>G"	""	""	""	"QKI(NM_006775.2):c.934+17A>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.163563736A>G"	""	"VUS"	""
"0000331347"	"0"	"50"	"6"	"163991734"	"163991734"	"subst"	"8.14803E-6"	"01804"	"QKI_000004"	"g.163991734G>A"	""	""	""	"QKI(NM_006775.2):c.1018G>A (p.(Gly340Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.163570702G>A"	""	"VUS"	""
"0000527973"	"0"	"30"	"6"	"163899807"	"163899807"	"subst"	"0"	"01804"	"QKI_000005"	"g.163899807C>T"	""	""	""	"QKI(NM_006775.2):c.286-5C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.163478775C>T"	""	"likely benign"	""
"0000527974"	"0"	"30"	"6"	"163899809"	"163899809"	"subst"	"0"	"01804"	"QKI_000006"	"g.163899809C>T"	""	""	""	"QKI(NM_006775.2):c.286-3C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.163478777C>T"	""	"likely benign"	""
"0000527975"	"0"	"30"	"6"	"163899809"	"163899811"	"del"	"0"	"01804"	"QKI_000007"	"g.163899809_163899811del"	""	""	""	"QKI(NM_006775.2):c.286-3_286-1del (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.163478777_163478779del"	""	"likely benign"	""
"0000527976"	"0"	"30"	"6"	"163899810"	"163899810"	"subst"	"0"	"01804"	"QKI_000008"	"g.163899810A>T"	""	""	""	"QKI(NM_006775.2):c.286-2A>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.163478778A>T"	""	"likely benign"	""
"0000527977"	"0"	"30"	"6"	"163899811"	"163899811"	"subst"	"0"	"01804"	"QKI_000009"	"g.163899811G>T"	""	""	""	"QKI(NM_006775.2):c.286-1G>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.163478779G>T"	""	"likely benign"	""
"0000527979"	"0"	"30"	"6"	"163899815"	"163899816"	"del"	"9.62035E-5"	"01804"	"QKI_000011"	"g.163899815_163899816del"	""	""	""	"QKI(NM_006775.2):c.289_290del (p.(Asn97PhefsTer9))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.163478783_163478784del"	""	"likely benign"	""
"0000527980"	"0"	"30"	"6"	"163985728"	"163985728"	"dup"	"0"	"01804"	"QKI_000012"	"g.163985728dup"	""	""	""	"QKI(NM_206854.2):c.963_964insA (p.(Ile322AsnfsTer12))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.163564696dup"	""	"likely benign"	""
"0000977085"	"0"	"30"	"6"	"163836376"	"163836376"	"subst"	"0.000631297"	"01804"	"QKI_000013"	"g.163836376C>G"	""	""	""	"QKI(NM_006775.3):c.142+9C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000977086"	"0"	"30"	"6"	"163956165"	"163956165"	"subst"	"0.000524985"	"01804"	"QKI_000014"	"g.163956165A>G"	""	""	""	"QKI(NM_006775.3):c.546+8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995546"	"0"	"30"	"6"	"163987810"	"163987810"	"subst"	"6.10511E-5"	"01804"	"QKI_000015"	"g.163987810T>C"	""	""	""	"QKI(NM_006775.2):c.992T>C (p.(Ile331Thr))"	"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 QKI
## Count = 13
"{{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}}"
"0000167165"	"00017244"	"90"	"0"	""	"0"	""	"c.(285+1_402)::?"	"r.?"	"p.?"	"2i_3"
"0000331346"	"00017244"	"50"	"934"	"17"	"934"	"17"	"c.934+17A>G"	"r.(=)"	"p.(=)"	""
"0000331347"	"00017244"	"50"	"1018"	"0"	"1018"	"0"	"c.1018G>A"	"r.(?)"	"p.(Gly340Ser)"	""
"0000527973"	"00017244"	"30"	"286"	"-5"	"286"	"-5"	"c.286-5C>T"	"r.spl?"	"p.?"	""
"0000527974"	"00017244"	"30"	"286"	"-3"	"286"	"-3"	"c.286-3C>T"	"r.spl?"	"p.?"	""
"0000527975"	"00017244"	"30"	"286"	"-3"	"286"	"-1"	"c.286-3_286-1del"	"r.spl?"	"p.?"	""
"0000527976"	"00017244"	"30"	"286"	"-2"	"286"	"-2"	"c.286-2A>T"	"r.spl?"	"p.?"	""
"0000527977"	"00017244"	"30"	"286"	"-1"	"286"	"-1"	"c.286-1G>T"	"r.spl?"	"p.?"	""
"0000527979"	"00017244"	"30"	"289"	"0"	"290"	"0"	"c.289_290del"	"r.(?)"	"p.(Asn97PhefsTer9)"	""
"0000527980"	"00017244"	"30"	"934"	"977"	"934"	"977"	"c.934+977dup"	"r.(=)"	"p.(=)"	""
"0000977085"	"00017244"	"30"	"142"	"9"	"142"	"9"	"c.142+9C>G"	"r.(=)"	"p.(=)"	""
"0000977086"	"00017244"	"30"	"546"	"8"	"546"	"8"	"c.546+8A>G"	"r.(=)"	"p.(=)"	""
"0000995546"	"00017244"	"30"	"992"	"0"	"992"	"0"	"c.992T>C"	"r.(?)"	"p.(Ile331Thr)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000103686"	"0000167165"